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<meta name="keywords" content="C0349639, arhgap26, cbl, jcml, jcml - juvenile chronic myeloid leukemia, jmml, juvenile chronic myelogenous leukaemia, juvenile chronic myelogenous leukemia, juvenile chronic myeloid leukaemia, juvenile chronic myeloid leukemia, juvenile chronic myelomonocytic leukaemia, juvenile chronic myelomonocytic leukemia, juvenile myelomonocytic leukaemia, juvenile myelomonocytic leukemia, juvenile myelomonocytic leukemia, autosomal dominant, somatic mutation, juvenile myelomonocytic leukemias, leukemia, chronic myelomonocytic, leukemia, juvenile myelomonocytic, leukemia, juvenile myelomonocytic, autosomal dominant, somatic mutation, leukemia, juvenile myelomonocytic, somatic, leukemia, myelomonocytic, juvenile, myelomonocytic leukemia, juvenile, myelomonocytic leukemias, juvenile, neoplastic process, nf1, ptpn11, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="Juvenile myelomonocytic leukemia is an aggressive pediatric myelodysplastic syndrome (MDS)/myeloproliferative disorder (MPD) characterized by malignant transformation in the hematopoietic stem cell compartment with proliferation of differentiated progeny (Loh et al., 2009). JMML constitutes approximately 30% of childhood cases of myelodysplastic syndrome and 2% of leukemia (Hasle et al., 1999). Although JMML is a progressive and often rapidly fatal disease without hematopoietic stem cell transplantation (HSCT), some patients have been shown to have a prolonged and stable clinical course without HSCT (Niemeyer et al., 1997). Chronic myelomonocytic leukemia (CMML) is a similar disorder with later onset. Both JMML and CMML have a high frequency of mutations affecting the RAS signaling pathway and show hypersensitivity to stimulation with GM-CSF, which causes STAT5 (601511) hyperphosphorylation (Loh et al., 2009). Genetic Heterogeneity of Juvenile Myelomonocytic Leukemia In up to 60% of cases of JMML, the RAS/MAPK pathway is deregulated due to somatic mutations in the PTPN11 (176876), KRAS (190070), and NRAS (164790) genes. Additionally, both germline and somatic mutations in the CBL gene have been found in patients with JMML, indicating a frequency of 10 to 15% of JMML patients overall (Loh et al., 2009). Somatic disruptions of the GRAF gene (ARHGAP26; 605370) have also been found in patients with JMML. About 10 to 15% of JMML cases arise in children with neurofibromatosis type I (NF1; 162200) due to germline mutations in the NF1 gene (613113). In addition, patients with Noonan syndrome (NS1, 163950; NS3, 609942) or Noonan syndrome-like disorder (NSLL; 613563) due to germline mutations in the PTPN11, KRAS2, and CBL genes, respectively, also have an increased risk of developing JMML. Genetic Heterogeneity of Chronic Myelomonocytic Leukemia Somatic mutations in the CBL, ASXL1 (612990), TET2 (612839), and SF3B1 (605590) genes have been found in patients with CMML." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=138109
|
||
ConceptID=C0349639
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Juvenile myelomonocytic leukemia<span class="h1sub">(JMML)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>138109</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0349639</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>JMML; LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Juvenile chronic myelomonocytic leukemia (128832006); Juvenile myelomonocytic leukemia (128832006); Juvenile myelomonocytic leukemia (445227008); JCML - Juvenile chronic myeloid leukemia (277587001); Juvenile chronic myeloid leukemia (277587001)</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_988794"><div><strong>Not genetically inherited</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>988794</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier assigned by MedGen (starting with CN) for terms that cannot be identified in NLM's Unified Medical Language system (UMLS) Click for more information.">CN307044</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">clinical entity without genetic inheritance.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/988794">This record</a></div></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_988794" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Not genetically inherited</a><span> (Orphanet)</span></div></td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Genes (locations):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
|
||
Gene(s) directly associated with<br />
|
||
this condition or phenotype.</div></td>
|
||
<td><a target="_blank" title="ARHGAP26 - ID: 23092 - NCBI Gene" href="/gene/23092" class="medgenPMinfo">ARHGAP26</a> (5q31.3); <a target="_blank" title="CBL - ID: 867 - NCBI Gene" href="/gene/867" class="medgenPMinfo">CBL</a> (11q23.3); <a target="_blank" title="NF1 - ID: 4763 - NCBI Gene" href="/gene/4763" class="medgenPMinfo">NF1</a> (17q11.2); <a target="_blank" title="PTPN11 - ID: 5781 - NCBI Gene" href="/gene/5781" class="medgenPMinfo">PTPN11</a> (12q24.13)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
||
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0012209">HP:0012209</a></td></tr>
|
||
<tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0011908" target="_blank">MONDO:0011908</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/607785" target="_blank">607785</a></td></tr>
|
||
<tr><td>Orphanet:</td>
|
||
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=86834">ORPHA86834</a></td></tr></tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet mgSection" id="ID_100">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">Juvenile myelomonocytic leukemia is an aggressive pediatric myelodysplastic syndrome (MDS)/myeloproliferative disorder (MPD) characterized by malignant transformation in the hematopoietic stem cell compartment with proliferation of differentiated progeny (Loh et al., 2009). JMML constitutes approximately 30% of childhood cases of myelodysplastic syndrome and 2% of leukemia (Hasle et al., 1999). Although JMML is a progressive and often rapidly fatal disease without hematopoietic stem cell transplantation (HSCT), some patients have been shown to have a prolonged and stable clinical course without HSCT (Niemeyer et al., 1997). Chronic myelomonocytic leukemia (CMML) is a similar disorder with later onset. Both JMML and CMML have a high frequency of mutations affecting the RAS signaling pathway and show hypersensitivity to stimulation with GM-CSF, which causes STAT5 (601511) hyperphosphorylation (Loh et al., 2009). Genetic Heterogeneity of Juvenile Myelomonocytic Leukemia In up to 60% of cases of JMML, the RAS/MAPK pathway is deregulated due to somatic mutations in the PTPN11 (176876), KRAS (190070), and NRAS (164790) genes. Additionally, both germline and somatic mutations in the CBL gene have been found in patients with JMML, indicating a frequency of 10 to 15% of JMML patients overall (Loh et al., 2009). Somatic disruptions of the GRAF gene (ARHGAP26; 605370) have also been found in patients with JMML. About 10 to 15% of JMML cases arise in children with neurofibromatosis type I (NF1; 162200) due to germline mutations in the NF1 gene (613113). In addition, patients with Noonan syndrome (NS1, 163950; NS3, 609942) or Noonan syndrome-like disorder (NSLL; 613563) due to germline mutations in the PTPN11, KRAS2, and CBL genes, respectively, also have an increased risk of developing JMML. Genetic Heterogeneity of Chronic Myelomonocytic Leukemia Somatic mutations in the CBL, ASXL1 (612990), TET2 (612839), and SF3B1 (605590) genes have been found in patients with CMML. [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_102">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_138109"><div><strong>Juvenile myelomonocytic leukemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>138109</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0349639</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Juvenile myelomonocytic leukemia is an aggressive pediatric myelodysplastic syndrome (MDS)/myeloproliferative disorder (MPD) characterized by malignant transformation in the hematopoietic stem cell compartment with proliferation of differentiated progeny (Loh et al., 2009). JMML constitutes approximately 30% of childhood cases of myelodysplastic syndrome and 2% of leukemia (Hasle et al., 1999). Although JMML is a progressive and often rapidly fatal disease without hematopoietic stem cell transplantation (HSCT), some patients have been shown to have a prolonged and stable clinical course without HSCT (Niemeyer et al., 1997). Chronic myelomonocytic leukemia (CMML) is a similar disorder with later onset. Both JMML and CMML have a high frequency of mutations affecting the RAS signaling pathway and show hypersensitivity to stimulation with GM-CSF, which causes STAT5 (601511) hyperphosphorylation (Loh et al., 2009). Genetic Heterogeneity of Juvenile Myelomonocytic Leukemia In up to 60% of cases of JMML, the RAS/MAPK pathway is deregulated due to somatic mutations in the PTPN11 (176876), KRAS (190070), and NRAS (164790) genes. Additionally, both germline and somatic mutations in the CBL gene have been found in patients with JMML, indicating a frequency of 10 to 15% of JMML patients overall (Loh et al., 2009). Somatic disruptions of the GRAF gene (ARHGAP26; 605370) have also been found in patients with JMML. About 10 to 15% of JMML cases arise in children with neurofibromatosis type I (NF1; 162200) due to germline mutations in the NF1 gene (613113). In addition, patients with Noonan syndrome (NS1, 163950; NS3, 609942) or Noonan syndrome-like disorder (NSLL; 613563) due to germline mutations in the PTPN11, KRAS2, and CBL genes, respectively, also have an increased risk of developing JMML. Genetic Heterogeneity of Chronic Myelomonocytic Leukemia Somatic mutations in the CBL, ASXL1 (612990), TET2 (612839), and SF3B1 (605590) genes have been found in patients with CMML.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/138109">Feature record</a> | <a href="/medgen?term=%22Juvenile%20myelomonocytic%20leukemia%22%5BClinical%20Features%5D%20OR%20138109%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite"><ul><li><span class="TLline">Neoplasm</span><ul><li class="TLline">
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<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_138109" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Juvenile myelomonocytic leukemia</a></span></li></ul></li></ul></div></div>
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</div>
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<div class="portlet mgSection" id="ID_118">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li><li><a href="#tabORDO">Orphanet</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C5555857[DISCUI]&test_type=Clinical" ref="ncbi_uid=1792298">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1792298" ref="ncbi_uid=1792298">V</a></span></span><span class="TLline"><a href="/medgen/1792298" ref="tree=GTR&ncbi_uid=1792298&link_uid=1792298" title="View MedGen record for 'RASopathy'">RASopathy</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=CN029449[DISCUI]&test_type=Clinical" ref="ncbi_uid=852267">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1186/" ref="ncbi_uid=852267">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=852267" ref="ncbi_uid=852267">V</a></span></span><span class="TLline"><a href="/medgen/852267" ref="tree=GTR&ncbi_uid=852267&link_uid=852267" title="View MedGen record for 'Cardiofaciocutaneous syndrome 1'">Cardiofaciocutaneous syndrome 1</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0587248[DISCUI]&test_type=Clinical" ref="ncbi_uid=108454">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=108454" target="_blank" href="/omim/190020">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1507/" ref="ncbi_uid=108454">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=108454" ref="ncbi_uid=108454">V</a></span></span><span class="TLline"><a href="/medgen/108454" ref="tree=GTR&ncbi_uid=108454&link_uid=108454" title="View MedGen record for 'Costello syndrome'">Costello syndrome</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4551558[DISCUI]&test_type=Clinical" ref="ncbi_uid=1647111">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1647111" target="_blank" href="/omim/135300">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1647111" ref="ncbi_uid=1647111">V</a></span></span><span class="TLline"><a href="/medgen/1647111" ref="tree=GTR&ncbi_uid=1647111&link_uid=1647111" title="View MedGen record for 'Fibromatosis, gingival, 1'">Fibromatosis, gingival, 1</a></span></li><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0349639[DISCUI]&test_type=Clinical" ref="ncbi_uid=138109">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=138109" target="_blank" href="/omim/165360">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=138109" ref="ncbi_uid=138109">V</a></span></span><span class="TLline">Juvenile myelomonocytic leukemia</span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1969623[DISCUI]&test_type=Clinical" ref="ncbi_uid=370709">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=370709" target="_blank" href="/omim/609291">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK47312/" ref="ncbi_uid=370709">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=370709" ref="ncbi_uid=370709">V</a></span></span><span class="TLline"><a href="/medgen/370709" ref="tree=GTR&ncbi_uid=370709&link_uid=370709" title="View MedGen record for 'Legius syndrome'">Legius syndrome</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0410530[DISCUI]&test_type=Clinical" ref="ncbi_uid=98377">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=98377" target="_blank" href="/omim/156250">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=98377" ref="ncbi_uid=98377">V</a></span></span><span class="TLline"><a href="/medgen/98377" ref="tree=GTR&ncbi_uid=98377&link_uid=98377" title="View MedGen record for 'Metachondromatosis'">Metachondromatosis</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0027831[DISCUI]&test_type=Clinical" ref="ncbi_uid=18013">C</a></span><span class="chiclet Rcolor round" title="Research test"><a target="_blank" href="/gtr/tests/?term=C0027831[DISCUI]&test_type=Research&redirect=true" ref="ncbi_uid=18013">R</a></span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=18013" target="_blank" href="/omim/162200">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/?term=(NBK1109%20OR%20NBK1294)%20AND%20gene%5Bbook%5D&showtype=onebook" ref="ncbi_uid=18013">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=18013" ref="ncbi_uid=18013">V</a></span></span><span class="TLline"><a href="/medgen/18013" ref="tree=GTR&ncbi_uid=18013&link_uid=18013" title="View MedGen record for 'Neurofibromatosis, type 1'">Neurofibromatosis, type 1</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0028326[DISCUI]&test_type=Clinical" ref="ncbi_uid=18073">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=18073" target="_blank" href="/omim/163950">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1124/" ref="ncbi_uid=18073">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=18073" ref="ncbi_uid=18073">V</a></span></span><span class="TLline"><a href="/medgen/18073" ref="tree=GTR&ncbi_uid=18073&link_uid=18073" title="View MedGen record for 'Noonan syndrome'">Noonan syndrome</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4551602[DISCUI]&test_type=Clinical" ref="ncbi_uid=1638960">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1638960" target="_blank" href="/omim/163950">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1124/" ref="ncbi_uid=1638960">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1638960" ref="ncbi_uid=1638960">V</a></span></span><span class="TLline"><a href="/medgen/1638960" ref="tree=GTR&ncbi_uid=1638960&link_uid=1638960" title="View MedGen record for 'Noonan syndrome 1'">Noonan syndrome 1</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1854469[DISCUI]&test_type=Clinical" ref="ncbi_uid=344290">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=344290" target="_blank" href="/omim/600574">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1124/" ref="ncbi_uid=344290">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=344290" ref="ncbi_uid=344290">V</a></span></span><span class="TLline"><a href="/medgen/344290" ref="tree=GTR&ncbi_uid=344290&link_uid=344290" title="View MedGen record for 'Noonan syndrome 2'">Noonan syndrome 2</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1860991[DISCUI]&test_type=Clinical" ref="ncbi_uid=349931">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=349931" target="_blank" href="/omim/190070">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1124/" ref="ncbi_uid=349931">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=349931" ref="ncbi_uid=349931">V</a></span></span><span class="TLline"><a href="/medgen/349931" ref="tree=GTR&ncbi_uid=349931&link_uid=349931" title="View MedGen record for 'Noonan syndrome 3'">Noonan syndrome 3</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1853120[DISCUI]&test_type=Clinical" ref="ncbi_uid=339908">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=339908" target="_blank" href="/omim/182530">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1124/" ref="ncbi_uid=339908">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=339908" ref="ncbi_uid=339908">V</a></span></span><span class="TLline"><a href="/medgen/339908" ref="tree=GTR&ncbi_uid=339908&link_uid=339908" title="View MedGen record for 'Noonan syndrome 4'">Noonan syndrome 4</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1969057[DISCUI]&test_type=Clinical" ref="ncbi_uid=370589">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=370589" target="_blank" href="/omim/164760">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1124/" ref="ncbi_uid=370589">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=370589" ref="ncbi_uid=370589">V</a></span></span><span class="TLline"><a href="/medgen/370589" ref="tree=GTR&ncbi_uid=370589&link_uid=370589" title="View MedGen record for 'Noonan syndrome 5'">Noonan syndrome 5</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2750732[DISCUI]&test_type=Clinical" ref="ncbi_uid=413028">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=413028" target="_blank" href="/omim/164790">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1124/" ref="ncbi_uid=413028">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=413028" ref="ncbi_uid=413028">V</a></span></span><span class="TLline"><a href="/medgen/413028" ref="tree=GTR&ncbi_uid=413028&link_uid=413028" title="View MedGen record for 'Noonan syndrome 6'">Noonan syndrome 6</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3150970[DISCUI]&test_type=Clinical" ref="ncbi_uid=462320">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=462320" target="_blank" href="/omim/164757">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1124/" ref="ncbi_uid=462320">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=462320" ref="ncbi_uid=462320">V</a></span></span><span class="TLline"><a href="/medgen/462320" ref="tree=GTR&ncbi_uid=462320&link_uid=462320" title="View MedGen record for 'Noonan syndrome 7'">Noonan syndrome 7</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3809233[DISCUI]&test_type=Clinical" ref="ncbi_uid=815563">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=815563" target="_blank" href="/omim/609591">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1124/" ref="ncbi_uid=815563">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=815563" ref="ncbi_uid=815563">V</a></span></span><span class="TLline"><a href="/medgen/815563" ref="tree=GTR&ncbi_uid=815563&link_uid=815563" title="View MedGen record for 'Noonan syndrome 8'">Noonan syndrome 8</a></span></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0175704[DISCUI]&test_type=Clinical" ref="ncbi_uid=104494">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=104494" target="_blank" href="/omim/151100">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1383/" ref="ncbi_uid=104494">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=104494" ref="ncbi_uid=104494">V</a></span></span><span class="TLline"><a href="/medgen/104494" ref="tree=GTR&ncbi_uid=104494&link_uid=104494" title="View MedGen record for 'Noonan syndrome with multiple lentigines'">Noonan syndrome with multiple lentigines</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4551484[DISCUI]&test_type=Clinical" ref="ncbi_uid=1631694">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1631694" target="_blank" href="/omim/151100">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1383/" ref="ncbi_uid=1631694">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1631694" ref="ncbi_uid=1631694">V</a></span></span><span class="TLline"><a href="/medgen/1631694" ref="tree=GTR&ncbi_uid=1631694&link_uid=1631694" title="View MedGen record for 'LEOPARD syndrome 1'">LEOPARD syndrome 1</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1969056[DISCUI]&test_type=Clinical" ref="ncbi_uid=370588">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=370588" target="_blank" href="/omim/164760">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1383/" ref="ncbi_uid=370588">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=370588" ref="ncbi_uid=370588">V</a></span></span><span class="TLline"><a href="/medgen/370588" ref="tree=GTR&ncbi_uid=370588&link_uid=370588" title="View MedGen record for 'LEOPARD syndrome 2'">LEOPARD syndrome 2</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3150971[DISCUI]&test_type=Clinical" ref="ncbi_uid=462321">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=462321" target="_blank" href="/omim/164757">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1383/" ref="ncbi_uid=462321">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=462321" ref="ncbi_uid=462321">V</a></span></span><span class="TLline"><a href="/medgen/462321" ref="tree=GTR&ncbi_uid=462321&link_uid=462321" title="View MedGen record for 'LEOPARD syndrome 3'">LEOPARD syndrome 3</a></span></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4478716[DISCUI]&test_type=Clinical" ref="ncbi_uid=1379805">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1379805" target="_blank" href="/omim/602775">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1379805" ref="ncbi_uid=1379805">V</a></span></span><span class="TLline"><a href="/medgen/1379805" ref="tree=GTR&ncbi_uid=1379805&link_uid=1379805" title="View MedGen record for 'Noonan syndrome-like disorder with loose anagen hair 1'">Noonan syndrome-like disorder with loose anagen hair 1</a></span></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/977559" ref="tree=MeSH" title="MedGen record for Myelodysplastic/myeloproliferative disease">Myelodysplastic/myeloproliferative disease</a></span><ul><li><span class="matched_ds">Juvenile myelomonocytic leukemia</span></li></ul></li></ul></div></div><div id="tabORDO">Follow <a target="_blank" href="http://www.orpha.net/consor/cgi-bin/Disease_Classif.php?lng=EN&data_id=156&PatId=11747&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Juvenile myelomonocytic leukemia</span> in Orphanet.</div></div></div>
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<div class="portlet mgSection" id="ID_112">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln clinfeat">
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<div class="divPopper rprt" id="rdis_138109"><div><strong>Juvenile myelomonocytic leukemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>138109</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0349639</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
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<div class="spaceAbove">Juvenile myelomonocytic leukemia is an aggressive pediatric myelodysplastic syndrome (MDS)/myeloproliferative disorder (MPD) characterized by malignant transformation in the hematopoietic stem cell compartment with proliferation of differentiated progeny (Loh et al., 2009). JMML constitutes approximately 30% of childhood cases of myelodysplastic syndrome and 2% of leukemia (Hasle et al., 1999). Although JMML is a progressive and often rapidly fatal disease without hematopoietic stem cell transplantation (HSCT), some patients have been shown to have a prolonged and stable clinical course without HSCT (Niemeyer et al., 1997). Chronic myelomonocytic leukemia (CMML) is a similar disorder with later onset. Both JMML and CMML have a high frequency of mutations affecting the RAS signaling pathway and show hypersensitivity to stimulation with GM-CSF, which causes STAT5 (601511) hyperphosphorylation (Loh et al., 2009). Genetic Heterogeneity of Juvenile Myelomonocytic Leukemia In up to 60% of cases of JMML, the RAS/MAPK pathway is deregulated due to somatic mutations in the PTPN11 (176876), KRAS (190070), and NRAS (164790) genes. Additionally, both germline and somatic mutations in the CBL gene have been found in patients with JMML, indicating a frequency of 10 to 15% of JMML patients overall (Loh et al., 2009). Somatic disruptions of the GRAF gene (ARHGAP26; 605370) have also been found in patients with JMML. About 10 to 15% of JMML cases arise in children with neurofibromatosis type I (NF1; 162200) due to germline mutations in the NF1 gene (613113). In addition, patients with Noonan syndrome (NS1, 163950; NS3, 609942) or Noonan syndrome-like disorder (NSLL; 613563) due to germline mutations in the PTPN11, KRAS2, and CBL genes, respectively, also have an increased risk of developing JMML. Genetic Heterogeneity of Chronic Myelomonocytic Leukemia Somatic mutations in the CBL, ASXL1 (612990), TET2 (612839), and SF3B1 (605590) genes have been found in patients with CMML.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/138109">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_349931"><div><strong>Noonan syndrome 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>349931</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1860991</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Noonan syndrome (NS) is characterized by characteristic facies, short stature, congenital heart defect, and developmental delay of variable degree. Other findings can include broad or webbed neck, unusual chest shape with superior pectus carinatum and inferior pectus excavatum, cryptorchidism, varied coagulation defects, lymphatic dysplasias, and ocular abnormalities. Although birth length is usually normal, final adult height approaches the lower limit of normal. Congenital heart disease occurs in 50%-80% of individuals. Pulmonary valve stenosis, often with dysplasia, is the most common heart defect and is found in 20%-50% of individuals. Hypertrophic cardiomyopathy, found in 20%-30% of individuals, may be present at birth or develop in infancy or childhood. Other structural defects include atrial and ventricular septal defects, branch pulmonary artery stenosis, and tetralogy of Fallot. Up to one fourth of affected individuals have mild intellectual disability, and language impairments in general are more common in NS than in the general population.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/349931">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_413028"><div><strong>Noonan syndrome 6</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>413028</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C2750732</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Noonan syndrome (NS) is characterized by characteristic facies, short stature, congenital heart defect, and developmental delay of variable degree. Other findings can include broad or webbed neck, unusual chest shape with superior pectus carinatum and inferior pectus excavatum, cryptorchidism, varied coagulation defects, lymphatic dysplasias, and ocular abnormalities. Although birth length is usually normal, final adult height approaches the lower limit of normal. Congenital heart disease occurs in 50%-80% of individuals. Pulmonary valve stenosis, often with dysplasia, is the most common heart defect and is found in 20%-50% of individuals. Hypertrophic cardiomyopathy, found in 20%-30% of individuals, may be present at birth or develop in infancy or childhood. Other structural defects include atrial and ventricular septal defects, branch pulmonary artery stenosis, and tetralogy of Fallot. Up to one fourth of affected individuals have mild intellectual disability, and language impairments in general are more common in NS than in the general population.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/413028">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_462153"><div><strong>CBL-related disorder</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462153</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3150803</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia (NSLL) is a developmental disorder resembling Noonan syndrome (NS1; 163950) and is characterized by facial dysmorphism, a wide spectrum of cardiac disease, reduced growth, variable cognitive deficits, and ectodermal and musculoskeletal anomalies. There is extensive phenotypic heterogeneity and variable expressivity. Patients with heterozygous germline CBL mutations have an increased risk for certain malignancies, particularly juvenile myelomonocytic leukemia (JMML; 607785), as seen in patients with Noonan syndrome (summary by Martinelli et al., 2010 and Niemeyer et al., 2010).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/462153">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1638960"><div><strong>Noonan syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1638960</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4551602</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Noonan syndrome (NS) is characterized by characteristic facies, short stature, congenital heart defect, and developmental delay of variable degree. Other findings can include broad or webbed neck, unusual chest shape with superior pectus carinatum and inferior pectus excavatum, cryptorchidism, varied coagulation defects, lymphatic dysplasias, and ocular abnormalities. Although birth length is usually normal, final adult height approaches the lower limit of normal. Congenital heart disease occurs in 50%-80% of individuals. Pulmonary valve stenosis, often with dysplasia, is the most common heart defect and is found in 20%-50% of individuals. Hypertrophic cardiomyopathy, found in 20%-30% of individuals, may be present at birth or develop in infancy or childhood. Other structural defects include atrial and ventricular septal defects, branch pulmonary artery stenosis, and tetralogy of Fallot. Up to one fourth of affected individuals have mild intellectual disability, and language impairments in general are more common in NS than in the general population.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1638960">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_462153" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">CBL-related disorder</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_138109" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Juvenile myelomonocytic leukemia</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1638960" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Noonan syndrome 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_349931" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Noonan syndrome 3</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_413028" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Noonan syndrome 6</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34183765">Exploring the genetic and epigenetic origins of juvenile myelomonocytic leukemia using newborn screening samples.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Behnert A,
|
||
Meyer J,
|
||
Parsa JY,
|
||
Hechmer A,
|
||
Loh ML,
|
||
Olshen A,
|
||
de Smith AJ,
|
||
Stieglitz E</span><br />
|
||
<span class="medgenPMjournal">Leukemia</span>
|
||
2022 Jan;36(1):279-282.
|
||
Epub 2021 Jun 28
|
||
doi: 10.1038/s41375-021-01331-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34183765" target="_blank">34183765</a><a href="/pmc/articles/PMC8720242" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27322988">Diagnosis and treatment of juvenile myelomonocytic leukemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sakashita K,
|
||
Matsuda K,
|
||
Koike K</span><br />
|
||
<span class="medgenPMjournal">Pediatr Int</span>
|
||
2016 Aug;58(8):681-90.
|
||
doi: 10.1111/ped.13068.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27322988" target="_blank">27322988</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18182584">Genotype-phenotype correlation in cases of juvenile myelomonocytic leukemia with clonal RAS mutations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Flotho C,
|
||
Kratz CP,
|
||
Bergsträsser E,
|
||
Hasle H,
|
||
Starý J,
|
||
Trebo M,
|
||
van den Heuvel-Eibrink MM,
|
||
Wójcik D,
|
||
Zecca M,
|
||
Locatelli F,
|
||
Niemeyer CM;
|
||
European Working Group of Myelodysplastic Syndromes in Childhood</span><br />
|
||
<span class="medgenPMjournal">Blood</span>
|
||
2008 Jan 15;111(2):966-7; author reply 967-8.
|
||
doi: 10.1182/blood-2007-09-111831.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18182584" target="_blank">18182584</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22juvenile%20myelomonocytic%20leukemia%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (28)</a></div><h3 class="subhead">Curated<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpCurated"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3><h3 class="nl vspace"><a href="https://www.nccn.org/professionals/physician_gls/pdf/mds.pdf" target="_blank">NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®), Myelodysplastic Syndromes, 2024</a></h3>
|
||
</div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36445482">The International Consensus Classification (ICC) of hematologic neoplasms with germline predisposition, pediatric myelodysplastic syndrome, and juvenile myelomonocytic leukemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rudelius M,
|
||
Weinberg OK,
|
||
Niemeyer CM,
|
||
Shimamura A,
|
||
Calvo KR</span><br />
|
||
<span class="medgenPMjournal">Virchows Arch</span>
|
||
2023 Jan;482(1):113-130.
|
||
Epub 2022 Nov 29
|
||
doi: 10.1007/s00428-022-03447-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36445482" target="_blank">36445482</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35236051">How I diagnose and treat chronic myelomonocytic leukemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Patnaik MM</span><br />
|
||
<span class="medgenPMjournal">Haematologica</span>
|
||
2022 Jul 1;107(7):1503-1517.
|
||
doi: 10.3324/haematol.2021.279500.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35236051" target="_blank">35236051</a><a href="/pmc/articles/PMC9244829" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33583502">Neonatal Leukemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Brown PA</span><br />
|
||
<span class="medgenPMjournal">Clin Perinatol</span>
|
||
2021 Mar;48(1):15-33.
|
||
doi: 10.1016/j.clp.2020.11.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33583502" target="_blank">33583502</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33011939">Clinical Spectrum of Ras-Associated Autoimmune Leukoproliferative Disorder (RALD).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Neven Q,
|
||
Boulanger C,
|
||
Bruwier A,
|
||
de Ville de Goyet M,
|
||
Meyts I,
|
||
Moens L,
|
||
Van Damme A,
|
||
Brichard B</span><br />
|
||
<span class="medgenPMjournal">J Clin Immunol</span>
|
||
2021 Jan;41(1):51-58.
|
||
Epub 2020 Oct 4
|
||
doi: 10.1007/s10875-020-00883-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33011939" target="_blank">33011939</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20492708">Beta-thalassemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Galanello R,
|
||
Origa R</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2010 May 21;5:11.
|
||
doi: 10.1186/1750-1172-5-11.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20492708" target="_blank">20492708</a><a href="/pmc/articles/PMC2893117" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Juvenile%20myelomonocytic%20leukemia%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (174)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36445482">The International Consensus Classification (ICC) of hematologic neoplasms with germline predisposition, pediatric myelodysplastic syndrome, and juvenile myelomonocytic leukemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rudelius M,
|
||
Weinberg OK,
|
||
Niemeyer CM,
|
||
Shimamura A,
|
||
Calvo KR</span><br />
|
||
<span class="medgenPMjournal">Virchows Arch</span>
|
||
2023 Jan;482(1):113-130.
|
||
Epub 2022 Nov 29
|
||
doi: 10.1007/s00428-022-03447-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36445482" target="_blank">36445482</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33630234">Pediatric Neoplasms Presenting with Monocytosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Greenmyer JR,
|
||
Kohorst M</span><br />
|
||
<span class="medgenPMjournal">Curr Hematol Malig Rep</span>
|
||
2021 Jun;16(3):235-246.
|
||
Epub 2021 Feb 25
|
||
doi: 10.1007/s11899-021-00611-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33630234" target="_blank">33630234</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25680783">Leukemias in Children.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Seth R,
|
||
Singh A</span><br />
|
||
<span class="medgenPMjournal">Indian J Pediatr</span>
|
||
2015 Sep;82(9):817-24.
|
||
Epub 2015 Feb 15
|
||
doi: 10.1007/s12098-015-1695-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25680783" target="_blank">25680783</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20492708">Beta-thalassemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Galanello R,
|
||
Origa R</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2010 May 21;5:11.
|
||
doi: 10.1186/1750-1172-5-11.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20492708" target="_blank">20492708</a><a href="/pmc/articles/PMC2893117" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16188648">Juvenile myelomonocytic leukemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kratz CP,
|
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Niemeyer CM</span><br />
|
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<span class="medgenPMjournal">Hematology</span>
|
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2005;10 Suppl 1:100-3.
|
||
doi: 10.1080/10245330512331390078.
|
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<span class="bold">PMID: </span><a href="/pubmed/16188648" target="_blank">16188648</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Juvenile%20myelomonocytic%20leukemia%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (292)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36005792">Drug Receives New Indication for Juvenile Myelomonocytic Leukemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Aschenbrenner DS</span><br />
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<span class="medgenPMjournal">Am J Nurs</span>
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2022 Sep 1;122(9):25.
|
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|
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|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35119175">Azacitidine as a bridge to transplantation in juvenile myelomonocytic leukemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Takebayashi A,
|
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Yamamoto M,
|
||
Igarashi K,
|
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Muramatsu H,
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Kawasaki Y</span><br />
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<span class="medgenPMjournal">Pediatr Int</span>
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2022 Jan;64(1):e14929.
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doi: 10.1111/ped.14929.
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<span class="bold">PMID: </span><a href="/pubmed/35119175" target="_blank">35119175</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/33275673">Myelodysplastic syndrome/myeloproliferative neoplasm overlap syndromes: a focused review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Patnaik MM,
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Lasho T</span><br />
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<span class="medgenPMjournal">Hematology Am Soc Hematol Educ Program</span>
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2020 Dec 4;2020(1):460-464.
|
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doi: 10.1182/hematology.2020000163.
|
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<span class="bold">PMID: </span><a href="/pubmed/33275673" target="_blank">33275673</a><a href="/pmc/articles/PMC7727594" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27283082">Progress and Prospects in Pediatric Leukemia.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Madhusoodhan PP,
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<span class="medgenPMjournal">Curr Probl Pediatr Adolesc Health Care</span>
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2016 Jul;46(7):229-241.
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doi: 10.1016/j.cppeds.2016.04.003.
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<span class="bold">PMID: </span><a href="/pubmed/27283082" target="_blank">27283082</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/9226148">Juvenile myelomonocytic leukemia.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Aricò M,
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Biondi A,
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Pui CH</span><br />
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<span class="medgenPMjournal">Blood</span>
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1997 Jul 15;90(2):479-88.
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<span class="bold">PMID: </span><a href="/pubmed/9226148" target="_blank">9226148</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Juvenile%20myelomonocytic%20leukemia%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (141)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35236051">How I diagnose and treat chronic myelomonocytic leukemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Patnaik MM</span><br />
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<span class="medgenPMjournal">Haematologica</span>
|
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2022 Jul 1;107(7):1503-1517.
|
||
doi: 10.3324/haematol.2021.279500.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35236051" target="_blank">35236051</a><a href="/pmc/articles/PMC9244829" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33275756">Genomics of myelodysplastic syndrome/myeloproliferative neoplasm overlap syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Patnaik MM,
|
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Lasho TL</span><br />
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<span class="medgenPMjournal">Hematology Am Soc Hematol Educ Program</span>
|
||
2020 Dec 4;2020(1):450-459.
|
||
doi: 10.1182/hematology.2020000130.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33275756" target="_blank">33275756</a><a href="/pmc/articles/PMC7727543" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33275673">Myelodysplastic syndrome/myeloproliferative neoplasm overlap syndromes: a focused review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Patnaik MM,
|
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Lasho T</span><br />
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<span class="medgenPMjournal">Hematology Am Soc Hematol Educ Program</span>
|
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2020 Dec 4;2020(1):460-464.
|
||
doi: 10.1182/hematology.2020000163.
|
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<span class="bold">PMID: </span><a href="/pubmed/33275673" target="_blank">33275673</a><a href="/pmc/articles/PMC7727594" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20492708">Beta-thalassemia.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Galanello R,
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Origa R</span><br />
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<span class="medgenPMjournal">Orphanet J Rare Dis</span>
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2010 May 21;5:11.
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doi: 10.1186/1750-1172-5-11.
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<span class="bold">PMID: </span><a href="/pubmed/20492708" target="_blank">20492708</a><a href="/pmc/articles/PMC2893117" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9226148">Juvenile myelomonocytic leukemia.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Aricò M,
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Biondi A,
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Pui CH</span><br />
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<span class="medgenPMjournal">Blood</span>
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1997 Jul 15;90(2):479-88.
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<span class="bold">PMID: </span><a href="/pubmed/9226148" target="_blank">9226148</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Juvenile%20myelomonocytic%20leukemia%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (194)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36495474">Transient immune deficiency accompanied with homozygous CBL rare variant.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Morishita A,
|
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Yeh TW,
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Tomari K,
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Furuichi M,
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Kashimada K,
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Morio T,
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Takagi M,
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Imai K</span><br />
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<span class="medgenPMjournal">Pediatr Int</span>
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||
2023 Jan;65(1):e15439.
|
||
doi: 10.1111/ped.15439.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36495474" target="_blank">36495474</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35236051">How I diagnose and treat chronic myelomonocytic leukemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Patnaik MM</span><br />
|
||
<span class="medgenPMjournal">Haematologica</span>
|
||
2022 Jul 1;107(7):1503-1517.
|
||
doi: 10.3324/haematol.2021.279500.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35236051" target="_blank">35236051</a><a href="/pmc/articles/PMC9244829" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34747111">Clinical outcome of cord blood transplantation for nine children with juvenile myelomonocytic leukemia receiving fludarabine-busulfan-cyclophosphamide-based conditioning.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Li G,
|
||
Sun Z,
|
||
Geng L,
|
||
Wan X,
|
||
Zhu X,
|
||
Tang B,
|
||
Tong J,
|
||
Yao W,
|
||
Song K,
|
||
Qiang P,
|
||
Zhang L,
|
||
Zhang X,
|
||
Zhang S,
|
||
Liu H</span><br />
|
||
<span class="medgenPMjournal">Pediatr Transplant</span>
|
||
2022 Mar;26(2):e14181.
|
||
Epub 2021 Nov 8
|
||
doi: 10.1111/petr.14181.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34747111" target="_blank">34747111</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33337259">Genetic complexity of chronic myelomonocytic leukemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Patel AB,
|
||
Deininger MW</span><br />
|
||
<span class="medgenPMjournal">Leuk Lymphoma</span>
|
||
2021 May;62(5):1031-1045.
|
||
Epub 2020 Dec 18
|
||
doi: 10.1080/10428194.2020.1856837.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33337259" target="_blank">33337259</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25147919">RASA4 undergoes DNA hypermethylation in resistant juvenile myelomonocytic leukemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Poetsch AR,
|
||
Lipka DB,
|
||
Witte T,
|
||
Claus R,
|
||
Nöllke P,
|
||
Zucknick M,
|
||
Olk-Batz C,
|
||
Fluhr S,
|
||
Dworzak M,
|
||
De Moerloose B,
|
||
Starý J,
|
||
Zecca M,
|
||
Hasle H,
|
||
Schmugge M,
|
||
van den Heuvel-Eibrink MM,
|
||
Locatelli F,
|
||
Niemeyer CM,
|
||
Flotho C,
|
||
Plass C</span><br />
|
||
<span class="medgenPMjournal">Epigenetics</span>
|
||
2014 Sep;9(9):1252-60.
|
||
Epub 2014 Jul 31
|
||
doi: 10.4161/epi.29941.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25147919" target="_blank">25147919</a><a href="/pmc/articles/PMC4169017" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Juvenile%20myelomonocytic%20leukemia%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (118)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
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|
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|
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|
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0349639%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (89)</a></li>
|
||
<li><a href="/gtr/tests?term=C0349639%5bDISCUI%5d&filter=method%3A2%5F30" target="_blank">RNA analysis (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C0349639%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (8)</a></li>
|
||
<li><a href="/gtr/tests?term=C0349639%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (103)</a></li>
|
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<li><a href="/gtr/tests?term=C0349639%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (27)</a></li>
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0349639%5bDISCUI%5d" target="_blank">See all (137)</a></total></li>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22juvenile%20myelomonocytic%20leukemia%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Juvenile%20myelomonocytic%20leukemia%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul><h3 class="subhead">Curated</h3><ul class="a_poppers"><li><a target="_blank" href="https://www.nccn.org/professionals/physician_gls/pdf/mds.pdf">NCCN, 2024</a><div>NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®), Myelodysplastic Syndromes, 2024</div></li></ul></div>
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<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=165360%20176876%20605370%20613113" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=867[geneid]" target="_blank">View CBL variations in ClinVar</a></li><li><a href="/clinvar/?term=4763[geneid]" target="_blank">View NF1 variations in ClinVar</a></li><li><a href="/clinvar/?term=5781[geneid]" target="_blank">View PTPN11 variations in ClinVar</a></li><li><a href="/clinvar/?term=23092[geneid]" target="_blank">View ARHGAP26 variations in ClinVar</a></li><li><a href="/nuccore/170014709,213385299,291049792,291490670" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=607785" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
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