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1127 lines
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<meta name="keywords" content="C0206728, elephantiasis neuromatoses, elephantiasis neuromatosis, neoplastic process, neurofibroma, plexiform, neurofibromas, plexiform, neuroma, plexiform, neuromas, plexiform, pachydermatocele, pachydermatoceles, plexiform neurofibroma, plexiform neurofibroma (disease), plexiform neurofibromas, plexiform neuroma, plexiform neuromas, tumor royale, 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="A neurofibroma in which Schwann cells proliferate inside the nerve sheath, producing an irregularly thickened, distorted, tortuous structure." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=64640
|
||
ConceptID=C0206728
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Plexiform neurofibroma</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>64640</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.">C0206728</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Elephantiasis Neuromatoses; Elephantiasis Neuromatosis; Neurofibroma, Plexiform; Neurofibromas, Plexiform; Neuroma, Plexiform; Neuromas, Plexiform; Pachydermatocele; Pachydermatoceles; Plexiform Neurofibroma; Plexiform Neurofibromas; Plexiform Neuroma; Plexiform Neuromas; Tumor Royale</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Plexiform neurofibroma (403818001); Plexiform neurofibroma (41252002); Plexiform neuroma (41252002)</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:0009732">HP:0009732</a></td></tr>
|
||
<tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0003304" target="_blank">MONDO:0003304</a></td></tr>
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||
</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>
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||
<div class="portlet_content ln">A neurofibroma in which Schwann cells proliferate inside the nerve sheath, producing an irregularly thickened, distorted, tortuous structure. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</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></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="matched_ds"><span class="TLline">Plexiform neurofibroma</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/1843306" ref="tree=MeSH" title="MedGen record for Benign peripheral nerve sheath tumor">Benign peripheral nerve sheath tumor</a></span><ul><li><span class="TLline"><a href="/medgen/45058" ref="tree=MeSH" title="MedGen record for Neurofibroma">Neurofibroma</a></span><ul><li><span class="matched_ds">Plexiform neurofibroma</span><ul><li><span class="TLline"><a href="/medgen/1792120" ref="tree=MeSH" title="MedGen record for Unresectable Plexiform Neurofibroma">Unresectable Plexiform Neurofibroma</a></span></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
|
||
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||
<div class="portlet mgSection" id="ID_112">
|
||
<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">
|
||
<div class="divPopper rprt" id="rdis_18013"><div><strong>Neurofibromatosis, type 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>18013</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.">C0027831</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Neurofibromatosis 1 (NF1) is a multisystem disorder characterized by multiple café au lait macules, intertriginous freckling, multiple cutaneous neurofibromas, and learning disability or behavior problems. About half of people with NF1 have plexiform neurofibromas, but most are internal and not suspected clinically. Plexiform neurofibromas can cause pain, neurologic deficits, and abnormalities of involved or adjacent structures. Less common but potentially more serious manifestations include optic nerve and other central nervous system gliomas, malignant peripheral nerve sheath tumors, scoliosis, tibial dysplasia, vasculopathy, and gastrointestinal, endocrine, or pulmonary disease.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/18013">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_320296"><div><strong>Neurofibromatosis, familial spinal</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>320296</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.">C1834235</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Spinal neurofibromatosis is an autosomal dominant disorder characterized by a high load of spinal tumors. These tumors may be asymptomatic or result in neurologic symptoms, including back pain, difficulty walking, and paresthesias. Spinal NF is considered to be a subtype of neurofibromatosis type I (NF1; 162200), which is an allelic disorder. Patients with spinal NF may or may not have the classic cutaneous cafe-au-lait pigmentary macules or ocular Lisch nodules typically observed in patients with classic NF1. Patients with spinal NF should be followed closely for spinal sequelae (summary by Burkitt Wright et al., 2013).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/320296">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_419089"><div><strong>Neurofibromatosis-Noonan syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>419089</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."><span class="highlight" style="background-color:">C2931482</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A variant of neurofibromatosis type 1 characterized by the combination of features of neurofibromatosis type 1, such as café-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, optic nerve glioma and multiple neurofibromas; and Noonan syndrome, with features such as short stature, typical facial features, congenital heart defects and unusual pectus deformity.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/419089">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1748029"><div><strong>Mismatch repair cancer syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1748029</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.">C5399763</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Lynch syndrome is characterized by an increased risk for colorectal cancer (CRC) and cancers of the endometrium, ovary, stomach, small bowel, urinary tract, biliary tract, brain (usually glioblastoma), skin (sebaceous adenomas, sebaceous carcinomas, and keratoacanthomas), pancreas, and prostate. Cancer risks and age of onset vary depending on the associated gene. Several other cancer types have been reported to occur in individuals with Lynch syndrome (e.g., breast, sarcomas, adrenocortical carcinoma). However, the data are not sufficient to demonstrate that the risk of developing these cancers is increased in individuals with Lynch syndrome.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1748029">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1726802"><div><strong>Chromosome 17q11.2 deletion syndrome, 1.4Mb</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1726802</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.">C5401456</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Approximately 5 to 20% of all patients with neurofibromatosis type I (162200) carry a heterozygous deletion of approximately 1.4 Mb involving the NF1 gene and contiguous genes lying in its flanking regions (Riva et al., 2000; Jenne et al., 2001), which is caused by nonallelic homologous recombination of NF1 repeats A and C (Dorschner et al., 2000). The 'NF1 microdeletion syndrome' is often characterized by a more severe phenotype than that observed in the majority of NF1 patients. In particular, patients with NF1 microdeletion often show variable facial dysmorphism, mental retardation, developmental delay, an excessive number of early-onset neurofibromas (Venturin et al., 2004), and an increased risk for malignant peripheral nerve sheath tumors (De Raedt et al., 2003).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1726802">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1726802" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Chromosome 17q11.2 deletion syndrome, 1.4Mb</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1748029" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mismatch repair cancer syndrome 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_320296" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurofibromatosis, familial spinal</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_18013" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurofibromatosis, type 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_419089" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurofibromatosis-Noonan syndrome</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/38406862">The management of neurofibromatosis type 1 (NF1) in children and adolescents.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kerashvili N,
|
||
Gutmann DH</span><br />
|
||
<span class="medgenPMjournal">Expert Rev Neurother</span>
|
||
2024 Apr;24(4):409-420.
|
||
Epub 2024 Feb 27
|
||
doi: 10.1080/14737175.2024.2324117.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38406862" target="_blank">38406862</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37328781">Treatment decisions and the use of MEK inhibitors for children with neurofibromatosis type 1-related plexiform neurofibromas.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Armstrong AE,
|
||
Belzberg AJ,
|
||
Crawford JR,
|
||
Hirbe AC,
|
||
Wang ZJ</span><br />
|
||
<span class="medgenPMjournal">BMC Cancer</span>
|
||
2023 Jun 16;23(1):553.
|
||
doi: 10.1186/s12885-023-10996-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37328781" target="_blank">37328781</a><a href="/pmc/articles/PMC10273716" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31582003">The Diagnosis and Management of Neurofibromatosis Type 1.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ly KI,
|
||
Blakeley JO</span><br />
|
||
<span class="medgenPMjournal">Med Clin North Am</span>
|
||
2019 Nov;103(6):1035-1054.
|
||
doi: 10.1016/j.mcna.2019.07.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31582003" target="_blank">31582003</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22plexiform%20neurofibroma%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 (24)</a></div></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/38406862">The management of neurofibromatosis type 1 (NF1) in children and adolescents.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kerashvili N,
|
||
Gutmann DH</span><br />
|
||
<span class="medgenPMjournal">Expert Rev Neurother</span>
|
||
2024 Apr;24(4):409-420.
|
||
Epub 2024 Feb 27
|
||
doi: 10.1080/14737175.2024.2324117.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38406862" target="_blank">38406862</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37906356">Management of Central and Peripheral Nervous System Tumors in Patients with Neurofibromatosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Brown R</span><br />
|
||
<span class="medgenPMjournal">Curr Oncol Rep</span>
|
||
2023 Dec;25(12):1409-1417.
|
||
Epub 2023 Oct 31
|
||
doi: 10.1007/s11912-023-01451-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37906356" target="_blank">37906356</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37328781">Treatment decisions and the use of MEK inhibitors for children with neurofibromatosis type 1-related plexiform neurofibromas.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Armstrong AE,
|
||
Belzberg AJ,
|
||
Crawford JR,
|
||
Hirbe AC,
|
||
Wang ZJ</span><br />
|
||
<span class="medgenPMjournal">BMC Cancer</span>
|
||
2023 Jun 16;23(1):553.
|
||
doi: 10.1186/s12885-023-10996-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37328781" target="_blank">37328781</a><a href="/pmc/articles/PMC10273716" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33588442">Diagnostic Pathology of Tumors of Peripheral Nerve.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Belakhoua SM,
|
||
Rodriguez FJ</span><br />
|
||
<span class="medgenPMjournal">Neurosurgery</span>
|
||
2021 Feb 16;88(3):443-456.
|
||
doi: 10.1093/neuros/nyab021.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33588442" target="_blank">33588442</a><a href="/pmc/articles/PMC7884141" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32604279">Postauricular Masses.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tasli H,
|
||
Gokgoz MC,
|
||
Karakoc O</span><br />
|
||
<span class="medgenPMjournal">J Craniofac Surg</span>
|
||
2020 Sep;31(6):e555-e560.
|
||
doi: 10.1097/SCS.0000000000006526.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32604279" target="_blank">32604279</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Plexiform%20neurofibroma%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 (270)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38198164">Treatment With Selumetinib for Café-au-Lait Macules and Plexiform Neurofibroma in Pediatric Patients With Neurofibromatosis Type 1.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Guo YX,
|
||
Wang HX,
|
||
Wang SS,
|
||
Croitoru D,
|
||
Piguet V,
|
||
Gao XH,
|
||
Xu XG</span><br />
|
||
<span class="medgenPMjournal">JAMA Dermatol</span>
|
||
2024 Mar 1;160(3):366-368.
|
||
doi: 10.1001/jamadermatol.2023.5338.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38198164" target="_blank">38198164</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33588442">Diagnostic Pathology of Tumors of Peripheral Nerve.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Belakhoua SM,
|
||
Rodriguez FJ</span><br />
|
||
<span class="medgenPMjournal">Neurosurgery</span>
|
||
2021 Feb 16;88(3):443-456.
|
||
doi: 10.1093/neuros/nyab021.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33588442" target="_blank">33588442</a><a href="/pmc/articles/PMC7884141" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31582003">The Diagnosis and Management of Neurofibromatosis Type 1.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ly KI,
|
||
Blakeley JO</span><br />
|
||
<span class="medgenPMjournal">Med Clin North Am</span>
|
||
2019 Nov;103(6):1035-1054.
|
||
doi: 10.1016/j.mcna.2019.07.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31582003" target="_blank">31582003</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28551330">Histopathologic evaluation of atypical neurofibromatous tumors and their transformation into malignant peripheral nerve sheath tumor in patients with neurofibromatosis 1-a consensus overview.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Miettinen MM,
|
||
Antonescu CR,
|
||
Fletcher CDM,
|
||
Kim A,
|
||
Lazar AJ,
|
||
Quezado MM,
|
||
Reilly KM,
|
||
Stemmer-Rachamimov A,
|
||
Stewart DR,
|
||
Viskochil D,
|
||
Widemann B,
|
||
Perry A</span><br />
|
||
<span class="medgenPMjournal">Hum Pathol</span>
|
||
2017 Sep;67:1-10.
|
||
Epub 2017 May 24
|
||
doi: 10.1016/j.humpath.2017.05.010.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28551330" target="_blank">28551330</a><a href="/pmc/articles/PMC5628119" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21072731">Tumors and tumor-like lesions of peripheral nerves.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Woertler K</span><br />
|
||
<span class="medgenPMjournal">Semin Musculoskelet Radiol</span>
|
||
2010 Nov;14(5):547-58.
|
||
Epub 2010 Nov 11
|
||
doi: 10.1055/s-0030-1268073.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21072731" target="_blank">21072731</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Plexiform%20neurofibroma%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 (476)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37906356">Management of Central and Peripheral Nervous System Tumors in Patients with Neurofibromatosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Brown R</span><br />
|
||
<span class="medgenPMjournal">Curr Oncol Rep</span>
|
||
2023 Dec;25(12):1409-1417.
|
||
Epub 2023 Oct 31
|
||
doi: 10.1007/s11912-023-01451-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37906356" target="_blank">37906356</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37328781">Treatment decisions and the use of MEK inhibitors for children with neurofibromatosis type 1-related plexiform neurofibromas.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Armstrong AE,
|
||
Belzberg AJ,
|
||
Crawford JR,
|
||
Hirbe AC,
|
||
Wang ZJ</span><br />
|
||
<span class="medgenPMjournal">BMC Cancer</span>
|
||
2023 Jun 16;23(1):553.
|
||
doi: 10.1186/s12885-023-10996-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37328781" target="_blank">37328781</a><a href="/pmc/articles/PMC10273716" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32767931">NF1, Neurofibromin and Gene Therapy: Prospects of Next-Generation Therapy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cui XW,
|
||
Ren JY,
|
||
Gu YH,
|
||
Li QF,
|
||
Wang ZC</span><br />
|
||
<span class="medgenPMjournal">Curr Gene Ther</span>
|
||
2020;20(2):100-108.
|
||
doi: 10.2174/1566523220666200806111451.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32767931" target="_blank">32767931</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32187457">Selumetinib in Children with Inoperable Plexiform Neurofibromas.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gross AM,
|
||
Wolters PL,
|
||
Dombi E,
|
||
Baldwin A,
|
||
Whitcomb P,
|
||
Fisher MJ,
|
||
Weiss B,
|
||
Kim A,
|
||
Bornhorst M,
|
||
Shah AC,
|
||
Martin S,
|
||
Roderick MC,
|
||
Pichard DC,
|
||
Carbonell A,
|
||
Paul SM,
|
||
Therrien J,
|
||
Kapustina O,
|
||
Heisey K,
|
||
Clapp DW,
|
||
Zhang C,
|
||
Peer CJ,
|
||
Figg WD,
|
||
Smith M,
|
||
Glod J,
|
||
Blakeley JO,
|
||
Steinberg SM,
|
||
Venzon DJ,
|
||
Doyle LA,
|
||
Widemann BC</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
2020 Apr 9;382(15):1430-1442.
|
||
Epub 2020 Mar 18
|
||
doi: 10.1056/NEJMoa1912735.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32187457" target="_blank">32187457</a><a href="/pmc/articles/PMC7305659" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28029918">Activity of Selumetinib in Neurofibromatosis Type 1-Related Plexiform Neurofibromas.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dombi E,
|
||
Baldwin A,
|
||
Marcus LJ,
|
||
Fisher MJ,
|
||
Weiss B,
|
||
Kim A,
|
||
Whitcomb P,
|
||
Martin S,
|
||
Aschbacher-Smith LE,
|
||
Rizvi TA,
|
||
Wu J,
|
||
Ershler R,
|
||
Wolters P,
|
||
Therrien J,
|
||
Glod J,
|
||
Belasco JB,
|
||
Schorry E,
|
||
Brofferio A,
|
||
Starosta AJ,
|
||
Gillespie A,
|
||
Doyle AL,
|
||
Ratner N,
|
||
Widemann BC</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
2016 Dec 29;375(26):2550-2560.
|
||
doi: 10.1056/NEJMoa1605943.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28029918" target="_blank">28029918</a><a href="/pmc/articles/PMC5508592" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Plexiform%20neurofibroma%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 (133)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38443693">Impact of trametinib on the neuropsychological profile of NF1 patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lalancette E,
|
||
Cantin É,
|
||
Routhier MÈ,
|
||
Mailloux C,
|
||
Bertrand MC,
|
||
Kiaei DS,
|
||
Larouche V,
|
||
Tabori U,
|
||
Hawkins C,
|
||
Ellezam B,
|
||
Décarie JC,
|
||
Théoret Y,
|
||
Métras MÉ,
|
||
McKeown T,
|
||
Ospina LH,
|
||
Vairy S,
|
||
Ramaswamy V,
|
||
Coltin H,
|
||
Sultan S,
|
||
Legault G,
|
||
Bouffet É,
|
||
Lafay-Cousin L,
|
||
Hukin J,
|
||
Erker C,
|
||
Caru M,
|
||
Dehaes M,
|
||
Jabado N,
|
||
Perreault S,
|
||
Lippé S</span><br />
|
||
<span class="medgenPMjournal">J Neurooncol</span>
|
||
2024 May;167(3):447-454.
|
||
Epub 2024 Mar 5
|
||
doi: 10.1007/s11060-024-04624-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38443693" target="_blank">38443693</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37906356">Management of Central and Peripheral Nervous System Tumors in Patients with Neurofibromatosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Brown R</span><br />
|
||
<span class="medgenPMjournal">Curr Oncol Rep</span>
|
||
2023 Dec;25(12):1409-1417.
|
||
Epub 2023 Oct 31
|
||
doi: 10.1007/s11912-023-01451-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37906356" target="_blank">37906356</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36134665">Multiple Nf1 Schwann cell populations reprogram the plexiform neurofibroma tumor microenvironment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kershner LJ,
|
||
Choi K,
|
||
Wu J,
|
||
Zhang X,
|
||
Perrino M,
|
||
Salomonis N,
|
||
Shern JF,
|
||
Ratner N</span><br />
|
||
<span class="medgenPMjournal">JCI Insight</span>
|
||
2022 Sep 22;7(18)
|
||
doi: 10.1172/jci.insight.154513.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36134665" target="_blank">36134665</a><a href="/pmc/articles/PMC9675562" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28551330">Histopathologic evaluation of atypical neurofibromatous tumors and their transformation into malignant peripheral nerve sheath tumor in patients with neurofibromatosis 1-a consensus overview.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Miettinen MM,
|
||
Antonescu CR,
|
||
Fletcher CDM,
|
||
Kim A,
|
||
Lazar AJ,
|
||
Quezado MM,
|
||
Reilly KM,
|
||
Stemmer-Rachamimov A,
|
||
Stewart DR,
|
||
Viskochil D,
|
||
Widemann B,
|
||
Perry A</span><br />
|
||
<span class="medgenPMjournal">Hum Pathol</span>
|
||
2017 Sep;67:1-10.
|
||
Epub 2017 May 24
|
||
doi: 10.1016/j.humpath.2017.05.010.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28551330" target="_blank">28551330</a><a href="/pmc/articles/PMC5628119" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24361143">Radiological manifestations of abdominopelvic nerve tumours seen in neurofibromatosis type 1.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ozcan HN,
|
||
Karcaaltincaba M,
|
||
Oguz B,
|
||
Haliloglu M</span><br />
|
||
<span class="medgenPMjournal">Clin Radiol</span>
|
||
2014 Apr;69(4):431-5.
|
||
Epub 2013 Dec 19
|
||
doi: 10.1016/j.crad.2013.11.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24361143" target="_blank">24361143</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Plexiform%20neurofibroma%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 (170)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36134665">Multiple Nf1 Schwann cell populations reprogram the plexiform neurofibroma tumor microenvironment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kershner LJ,
|
||
Choi K,
|
||
Wu J,
|
||
Zhang X,
|
||
Perrino M,
|
||
Salomonis N,
|
||
Shern JF,
|
||
Ratner N</span><br />
|
||
<span class="medgenPMjournal">JCI Insight</span>
|
||
2022 Sep 22;7(18)
|
||
doi: 10.1172/jci.insight.154513.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36134665" target="_blank">36134665</a><a href="/pmc/articles/PMC9675562" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35467749">Selumetinib in children with neurofibromatosis type 1 and asymptomatic inoperable plexiform neurofibroma at risk for developing tumor-related morbidity.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gross AM,
|
||
Glassberg B,
|
||
Wolters PL,
|
||
Dombi E,
|
||
Baldwin A,
|
||
Fisher MJ,
|
||
Kim A,
|
||
Bornhorst M,
|
||
Weiss BD,
|
||
Blakeley JO,
|
||
Whitcomb P,
|
||
Paul SM,
|
||
Steinberg SM,
|
||
Venzon DJ,
|
||
Martin S,
|
||
Carbonell A,
|
||
Heisey K,
|
||
Therrien J,
|
||
Kapustina O,
|
||
Dufek A,
|
||
Derdak J,
|
||
Smith MA,
|
||
Widemann BC</span><br />
|
||
<span class="medgenPMjournal">Neuro Oncol</span>
|
||
2022 Nov 2;24(11):1978-1988.
|
||
doi: 10.1093/neuonc/noac109.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35467749" target="_blank">35467749</a><a href="/pmc/articles/PMC9629448" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32187457">Selumetinib in Children with Inoperable Plexiform Neurofibromas.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gross AM,
|
||
Wolters PL,
|
||
Dombi E,
|
||
Baldwin A,
|
||
Whitcomb P,
|
||
Fisher MJ,
|
||
Weiss B,
|
||
Kim A,
|
||
Bornhorst M,
|
||
Shah AC,
|
||
Martin S,
|
||
Roderick MC,
|
||
Pichard DC,
|
||
Carbonell A,
|
||
Paul SM,
|
||
Therrien J,
|
||
Kapustina O,
|
||
Heisey K,
|
||
Clapp DW,
|
||
Zhang C,
|
||
Peer CJ,
|
||
Figg WD,
|
||
Smith M,
|
||
Glod J,
|
||
Blakeley JO,
|
||
Steinberg SM,
|
||
Venzon DJ,
|
||
Doyle LA,
|
||
Widemann BC</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
2020 Apr 9;382(15):1430-1442.
|
||
Epub 2020 Mar 18
|
||
doi: 10.1056/NEJMoa1912735.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32187457" target="_blank">32187457</a><a href="/pmc/articles/PMC7305659" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28551330">Histopathologic evaluation of atypical neurofibromatous tumors and their transformation into malignant peripheral nerve sheath tumor in patients with neurofibromatosis 1-a consensus overview.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Miettinen MM,
|
||
Antonescu CR,
|
||
Fletcher CDM,
|
||
Kim A,
|
||
Lazar AJ,
|
||
Quezado MM,
|
||
Reilly KM,
|
||
Stemmer-Rachamimov A,
|
||
Stewart DR,
|
||
Viskochil D,
|
||
Widemann B,
|
||
Perry A</span><br />
|
||
<span class="medgenPMjournal">Hum Pathol</span>
|
||
2017 Sep;67:1-10.
|
||
Epub 2017 May 24
|
||
doi: 10.1016/j.humpath.2017.05.010.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28551330" target="_blank">28551330</a><a href="/pmc/articles/PMC5628119" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28029918">Activity of Selumetinib in Neurofibromatosis Type 1-Related Plexiform Neurofibromas.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dombi E,
|
||
Baldwin A,
|
||
Marcus LJ,
|
||
Fisher MJ,
|
||
Weiss B,
|
||
Kim A,
|
||
Whitcomb P,
|
||
Martin S,
|
||
Aschbacher-Smith LE,
|
||
Rizvi TA,
|
||
Wu J,
|
||
Ershler R,
|
||
Wolters P,
|
||
Therrien J,
|
||
Glod J,
|
||
Belasco JB,
|
||
Schorry E,
|
||
Brofferio A,
|
||
Starosta AJ,
|
||
Gillespie A,
|
||
Doyle AL,
|
||
Ratner N,
|
||
Widemann BC</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
2016 Dec 29;375(26):2550-2560.
|
||
doi: 10.1056/NEJMoa1605943.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28029918" target="_blank">28029918</a><a href="/pmc/articles/PMC5508592" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Plexiform%20neurofibroma%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 (192)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/38502338">Efficacy and safety of selumetinib in patients with neurofibromatosis type 1 and inoperable plexiform neurofibromas: a systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Han Y,
|
||
Li B,
|
||
Yu X,
|
||
Liu J,
|
||
Zhao W,
|
||
Zhang D,
|
||
Zhang J</span><br />
|
||
<span class="medgenPMjournal">J Neurol</span>
|
||
2024 May;271(5):2379-2389.
|
||
Epub 2024 Mar 19
|
||
doi: 10.1007/s00415-024-12301-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38502338" target="_blank">38502338</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36395447">Isolated, Nonsyndromic Mucocutaneous Plexiform Neurofibromas: A Systematic Review of the Clinicopathologic Features.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ho JD,
|
||
Ho JAS,
|
||
Ruddock R,
|
||
Spencer SA</span><br />
|
||
<span class="medgenPMjournal">Am J Dermatopathol</span>
|
||
2022 Dec 1;44(12):904-912.
|
||
doi: 10.1097/DAD.0000000000002322.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36395447" target="_blank">36395447</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35759947">A Systematic Review of Recent and Ongoing Clinical Trials in Patients With the Neurofibromatoses.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Acar S,
|
||
Nieblas-Bedolla E,
|
||
Armstrong AE,
|
||
Hirbe AC</span><br />
|
||
<span class="medgenPMjournal">Pediatr Neurol</span>
|
||
2022 Sep;134:1-6.
|
||
Epub 2022 Jun 10
|
||
doi: 10.1016/j.pediatrneurol.2022.06.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35759947" target="_blank">35759947</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35017312">Efficacy and Safety of Selumetinib in Pediatric Patients With Neurofibromatosis Type 1: A Systematic Review and Meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hwang J,
|
||
Yoon HM,
|
||
Lee BH,
|
||
Kim PH,
|
||
Kim KW</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2022 Mar 1;98(9):e938-e946.
|
||
Epub 2022 Jan 11
|
||
doi: 10.1212/WNL.0000000000013296.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35017312" target="_blank">35017312</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27212418">Café-au-lait Macules and Neurofibromatosis Type 1: A Review of the Literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bernier A,
|
||
Larbrisseau A,
|
||
Perreault S</span><br />
|
||
<span class="medgenPMjournal">Pediatr Neurol</span>
|
||
2016 Jul;60:24-29.e1.
|
||
Epub 2016 Mar 19
|
||
doi: 10.1016/j.pediatrneurol.2016.03.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27212418" target="_blank">27212418</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Plexiform%20neurofibroma%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (7)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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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=(%22plexiform%20neurofibroma%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(%22Plexiform%20neurofibroma%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></div>
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