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<meta name="keywords" content="C2751681, alk, alk neuroblastoma, alk-related neuroblastic tumor susceptibility, alk-related neuroblastoma susceptibility, finding, nblst3, neuroblastoma 3, neuroblastoma caused by mutation in alk, neuroblastoma, susceptibility to, 3, neuroblastoma, susceptibility to, type 3, susceptibility to neuroblastoma 3, 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="ALK-related neuroblastic tumor susceptibility is characterized by increased risk for neuroblastic tumors including neuroblastomas, ganglioneuroblastomas, and ganglioneuromas. Neuroblastomas are a more malignant tumor and ganglioneuromas a more benign tumor. Depending on the histologic findings, ganglioneuroblastomas can behave in a more aggressive fashion, like neuroblastomas, or in a benign fashion, like ganglioneuromas. The overall penetrance of a germline ALK pathogenic variant is approximately 50%, with the risk for neuroblastic tumor development highest in infancy and decreasing by late childhood." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=414083
|
||
ConceptID=C2751681
|
||
-->
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||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Neuroblastoma, susceptibility to, 3<span class="h1sub">(NBLST3)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>414083</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:">C2751681</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>ALK-Related Neuroblastic Tumor Susceptibility; ALK-Related Neuroblastoma Susceptibility; Neuroblastoma 3</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">Gene (location):<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="ALK - ID: 238 - NCBI Gene" href="/gene/238" class="medgenPMinfo">ALK</a> (2p23.2-23.1)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0013083" target="_blank">MONDO:0013083</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/613014" target="_blank">613014</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_101">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Disease_characteristics">Disease characteristics</h1><a sid="101" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="excerpt">Excerpted from the <i>GeneReview: </i><a href="/books/NBK24599" target="_blank">ALK-Related Neuroblastic Tumor Susceptibility</a></div><div>ALK-related neuroblastic tumor susceptibility is characterized by increased risk for neuroblastic tumors including neuroblastomas, ganglioneuroblastomas, and ganglioneuromas. Neuroblastomas are a more malignant tumor and ganglioneuromas a more benign tumor. Depending on the histologic findings, ganglioneuroblastomas can behave in a more aggressive fashion, like neuroblastomas, or in a benign fashion, like ganglioneuromas. The overall penetrance of a germline ALK pathogenic variant is approximately 50%, with the risk for neuroblastic tumor development highest in infancy and decreasing by late childhood. [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</div><div class="spaceAbove"><strong>Full text of <i>GeneReview</i> (by section):</strong><br /><a class="medgenPMinfo" href="/books/NBK24599#alk-nbs.Summary" target="NBK24599">Summary</a> | <a class="medgenPMinfo" href="/books/NBK24599#alk-nbs.GeneReview_Scope" target="NBK24599">GeneReview Scope</a> | <a class="medgenPMinfo" href="/books/NBK24599#alk-nbs.Diagnosis" target="NBK24599">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK24599#alk-nbs.Clinical_Characteristics" target="NBK24599">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK24599#alk-nbs.Genetically_Related_Allelic_Diso" target="NBK24599">Genetically Related (Allelic) Disorders</a> | <a class="medgenPMinfo" href="/books/NBK24599#alk-nbs.Differential_Diagnosis" target="NBK24599">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK24599#alk-nbs.Management" target="NBK24599">Management</a> | <a class="medgenPMinfo" href="/books/NBK24599#alk-nbs.Genetic_Counseling" target="NBK24599">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK24599#alk-nbs.Resources" target="NBK24599">Resources</a> | <a class="medgenPMinfo" href="/books/NBK24599#alk-nbs.Molecular_Genetics" target="NBK24599">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK24599#alk-nbs.Chapter_Notes" target="NBK24599">Chapter Notes</a> | <a class="medgenPMinfo" href="/books/NBK24599#alk-nbs.References" target="NBK24599">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
|
||
Emily G Greengard | Melissa R Perrino | Julie R Park <a href="/books/NBK24599" target="NBK24599" title="NCBI Bookshelf: ALK-Related Neuroblastic Tumor Susceptibility">view full author information</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_117">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_description">Additional description</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />Neuroblastoma is a type of cancer that most often affects children. Neuroblastoma occurs when immature nerve cells called neuroblasts become abnormal and multiply uncontrollably to form a tumor. Most commonly, the tumor originates in the nerve tissue of the adrenal gland located above each kidney. Other common sites for tumors to form include the nerve tissue in the abdomen, chest, neck, or pelvis. Neuroblastoma can spread (metastasize) to other parts of the body such as the bones, liver, or skin.<br /><br />Individuals with neuroblastoma may develop general signs and symptoms such as irritability, fever, tiredness (fatigue), pain, loss of appetite, weight loss, or diarrhea. More specific signs and symptoms depend on the location of the tumor and where it has spread. A tumor in the abdomen can cause abdominal swelling. A tumor in the chest may lead to difficulty breathing. A tumor in the neck can cause nerve damage known as Horner syndrome, which leads to drooping eyelids, small pupils, decreased sweating, and red skin. Tumor metastasis to the bone can cause bone pain, bruises, pale skin, or dark circles around the eyes. Tumors in the backbone can press on the spinal cord and cause weakness, numbness, or paralysis in the arms or legs. A rash of bluish or purplish bumps that look like blueberries indicates that the neuroblastoma has spread to the skin.<br /><br />In addition, neuroblastoma tumors can release hormones that may cause other signs and symptoms such as high blood pressure, rapid heartbeat, flushing of the skin, and sweating. In rare instances, individuals with neuroblastoma may develop opsoclonus myoclonus syndrome, which causes rapid eye movements and jerky muscle motions. This condition occurs when the immune system malfunctions and attacks nerve tissue.<br /><br />Neuroblastoma occurs most often in children before age 5 and rarely occurs in adults. <a target="_blank" href="https://medlineplus.gov/genetics/condition/neuroblastoma">https://medlineplus.gov/genetics/condition/neuroblastoma</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
|
||
<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>
|
||
<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="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0027819[DISCUI]&test_type=Clinical" ref="ncbi_uid=18012">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/NBK24599/" ref="ncbi_uid=18012">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=18012" ref="ncbi_uid=18012">V</a></span></span><span class="TLline"><a href="/medgen/18012" ref="tree=GTR&ncbi_uid=18012&link_uid=18012" title="View MedGen record for 'Neuroblastoma'">Neuroblastoma</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=C2749485[DISCUI]&test_type=Clinical" ref="ncbi_uid=412713">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=412713" target="_blank" href="/omim/256700">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=412713" ref="ncbi_uid=412713">V</a></span></span><span class="TLline"><a href="/medgen/412713" ref="tree=GTR&ncbi_uid=412713&link_uid=412713" title="View MedGen record for 'Neuroblastoma, susceptibility to, 1'">Neuroblastoma, susceptibility to, 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=C2751682[DISCUI]&test_type=Clinical" ref="ncbi_uid=416607">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=416607" target="_blank" href="/omim/603851">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=416607" ref="ncbi_uid=416607">V</a></span></span><span class="TLline"><a href="/medgen/416607" ref="tree=GTR&ncbi_uid=416607&link_uid=416607" title="View MedGen record for 'Neuroblastoma, susceptibility to, 2'">Neuroblastoma, susceptibility to, 2</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=C2751681[DISCUI]&test_type=Clinical" ref="ncbi_uid=414083">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=414083" target="_blank" href="/omim/105590">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK24599/" ref="ncbi_uid=414083">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=414083" ref="ncbi_uid=414083">V</a></span></span><span class="TLline">Neuroblastoma, susceptibility to, 3</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/4347" ref="tree=MeSH" title="MedGen record for Disease">Disease</a></span><ul><li><span class="TLline"><a href="/medgen/10294" ref="tree=MeSH" title="MedGen record for Neoplasm">Neoplasm</a></span><ul><li><span class="TLline"><a href="/medgen/45034" ref="tree=MeSH" title="MedGen record for Embryonal neoplasm">Embryonal neoplasm</a></span><ul><li><span class="TLline"><a href="/medgen/234214" ref="tree=MeSH" title="MedGen record for Central Nervous System Embryonal Tumor">Central Nervous System Embryonal Tumor</a></span><ul><li><span class="TLline"><a href="/medgen/1389430" ref="tree=MeSH" title="MedGen record for Central nervous system Ewing sarcoma/peripheral primitive neuroectodermal tumor">Central nervous system Ewing sarcoma/peripheral primitive neuroectodermal tumor</a></span><ul><li><span class="TLline"><a href="/medgen/18012" ref="tree=MeSH" title="MedGen record for Neuroblastoma">Neuroblastoma</a></span><ul><li><span class="matched_ds">Neuroblastoma, susceptibility to, 3</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></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/36979499">Potential Treatment Options for Neuroblastoma with Polyphenols through Anti-Proliferative and Apoptotic Mechanisms.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kafoud A,
|
||
Salahuddin Z,
|
||
Ibrahim RS,
|
||
Al-Janahi R,
|
||
Mazurakova A,
|
||
Kubatka P,
|
||
Büsselberg D</span><br />
|
||
<span class="medgenPMjournal">Biomolecules</span>
|
||
2023 Mar 20;13(3)
|
||
doi: 10.3390/biom13030563.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36979499" target="_blank">36979499</a><a href="/pmc/articles/PMC10046851" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34503817">Pediatric solid tumors and associated cancer predisposition syndromes: Workup, management, and surveillance. A summary from the APSA Cancer Committee.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Grant CN,
|
||
Rhee D,
|
||
Tracy ET,
|
||
Aldrink JH,
|
||
Baertschiger RM,
|
||
Lautz TB,
|
||
Glick RD,
|
||
Rodeberg DA,
|
||
Ehrlich PF,
|
||
Christison-Lagay E</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Surg</span>
|
||
2022 Mar;57(3):430-442.
|
||
Epub 2021 Aug 24
|
||
doi: 10.1016/j.jpedsurg.2021.08.008.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34503817" target="_blank">34503817</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31761904">Defining clinical subgroups and genotype-phenotype correlations in NBAS-associated disease across 110 patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Staufner C,
|
||
Peters B,
|
||
Wagner M,
|
||
Alameer S,
|
||
Barić I,
|
||
Broué P,
|
||
Bulut D,
|
||
Church JA,
|
||
Crushell E,
|
||
Dalgıç B,
|
||
Das AM,
|
||
Dick A,
|
||
Dikow N,
|
||
Dionisi-Vici C,
|
||
Distelmaier F,
|
||
Bozbulut NE,
|
||
Feillet F,
|
||
Gonzales E,
|
||
Hadzic N,
|
||
Hauck F,
|
||
Hegarty R,
|
||
Hempel M,
|
||
Herget T,
|
||
Klein C,
|
||
Konstantopoulou V,
|
||
Kopajtich R,
|
||
Kuster A,
|
||
Laass MW,
|
||
Lainka E,
|
||
Larson-Nath C,
|
||
Leibner A,
|
||
Lurz E,
|
||
Mayr JA,
|
||
McKiernan P,
|
||
Mention K,
|
||
Moog U,
|
||
Mungan NO,
|
||
Riedhammer KM,
|
||
Santer R,
|
||
Palafoll IV,
|
||
Vockley J,
|
||
Westphal DS,
|
||
Wiedemann A,
|
||
Wortmann SB,
|
||
Diwan GD,
|
||
Russell RB,
|
||
Prokisch H,
|
||
Garbade SF,
|
||
Kölker S,
|
||
Hoffmann GF,
|
||
Lenz D</span><br />
|
||
<span class="medgenPMjournal">Genet Med</span>
|
||
2020 Mar;22(3):610-621.
|
||
Epub 2019 Nov 25
|
||
doi: 10.1038/s41436-019-0698-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31761904" target="_blank">31761904</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(neuroblastoma%2C%20susceptibility%20to%2C%203)%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 (8)</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/38860978">Neuroblastoma Predisposition and Surveillance-An Update from the 2023 AACR Childhood Cancer Predisposition Workshop.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kamihara J,
|
||
Diller LR,
|
||
Foulkes WD,
|
||
Michaeli O,
|
||
Nakano Y,
|
||
Pajtler KW,
|
||
Perrino M,
|
||
Scollon SR,
|
||
Stewart DR,
|
||
Voss S,
|
||
Weksberg R,
|
||
Hansford JR,
|
||
Brodeur GM</span><br />
|
||
<span class="medgenPMjournal">Clin Cancer Res</span>
|
||
2024 Aug 1;30(15):3137-3143.
|
||
doi: 10.1158/1078-0432.CCR-24-0237.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38860978" target="_blank">38860978</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34133209">Therapeutic Implications of Germline Testing in Patients With Advanced Cancers.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Stadler ZK,
|
||
Maio A,
|
||
Chakravarty D,
|
||
Kemel Y,
|
||
Sheehan M,
|
||
Salo-Mullen E,
|
||
Tkachuk K,
|
||
Fong CJ,
|
||
Nguyen B,
|
||
Erakky A,
|
||
Cadoo K,
|
||
Liu Y,
|
||
Carlo MI,
|
||
Latham A,
|
||
Zhang H,
|
||
Kundra R,
|
||
Smith S,
|
||
Galle J,
|
||
Aghajanian C,
|
||
Abu-Rustum N,
|
||
Varghese A,
|
||
O'Reilly EM,
|
||
Morris M,
|
||
Abida W,
|
||
Walsh M,
|
||
Drilon A,
|
||
Jayakumaran G,
|
||
Zehir A,
|
||
Ladanyi M,
|
||
Ceyhan-Birsoy O,
|
||
Solit DB,
|
||
Schultz N,
|
||
Berger MF,
|
||
Mandelker D,
|
||
Diaz LA Jr,
|
||
Offit K,
|
||
Robson ME</span><br />
|
||
<span class="medgenPMjournal">J Clin Oncol</span>
|
||
2021 Aug 20;39(24):2698-2709.
|
||
Epub 2021 Jun 16
|
||
doi: 10.1200/JCO.20.03661.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34133209" target="_blank">34133209</a><a href="/pmc/articles/PMC8376329" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29378002">Neuroblastoma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nakagawara A,
|
||
Li Y,
|
||
Izumi H,
|
||
Muramori K,
|
||
Inada H,
|
||
Nishi M</span><br />
|
||
<span class="medgenPMjournal">Jpn J Clin Oncol</span>
|
||
2018 Mar 1;48(3):214-241.
|
||
doi: 10.1093/jjco/hyx176.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29378002" target="_blank">29378002</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28241208">Association Between Telomere Length and Risk of Cancer and Non-Neoplastic Diseases: A Mendelian Randomization Study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Telomeres Mendelian Randomization Collaboration,
|
||
Haycock PC,
|
||
Burgess S,
|
||
Nounu A,
|
||
Zheng J,
|
||
Okoli GN,
|
||
Bowden J,
|
||
Wade KH,
|
||
Timpson NJ,
|
||
Evans DM,
|
||
Willeit P,
|
||
Aviv A,
|
||
Gaunt TR,
|
||
Hemani G,
|
||
Mangino M,
|
||
Ellis HP,
|
||
Kurian KM,
|
||
Pooley KA,
|
||
Eeles RA,
|
||
Lee JE,
|
||
Fang S,
|
||
Chen WV,
|
||
Law MH,
|
||
Bowdler LM,
|
||
Iles MM,
|
||
Yang Q,
|
||
Worrall BB,
|
||
Markus HS,
|
||
Hung RJ,
|
||
Amos CI,
|
||
Spurdle AB,
|
||
Thompson DJ,
|
||
O'Mara TA,
|
||
Wolpin B,
|
||
Amundadottir L,
|
||
Stolzenberg-Solomon R,
|
||
Trichopoulou A,
|
||
Onland-Moret NC,
|
||
Lund E,
|
||
Duell EJ,
|
||
Canzian F,
|
||
Severi G,
|
||
Overvad K,
|
||
Gunter MJ,
|
||
Tumino R,
|
||
Svenson U,
|
||
van Rij A,
|
||
Baas AF,
|
||
Bown MJ,
|
||
Samani NJ,
|
||
van t'Hof FNG,
|
||
Tromp G,
|
||
Jones GT,
|
||
Kuivaniemi H,
|
||
Elmore JR,
|
||
Johansson M,
|
||
Mckay J,
|
||
Scelo G,
|
||
Carreras-Torres R,
|
||
Gaborieau V,
|
||
Brennan P,
|
||
Bracci PM,
|
||
Neale RE,
|
||
Olson SH,
|
||
Gallinger S,
|
||
Li D,
|
||
Petersen GM,
|
||
Risch HA,
|
||
Klein AP,
|
||
Han J,
|
||
Abnet CC,
|
||
Freedman ND,
|
||
Taylor PR,
|
||
Maris JM,
|
||
Aben KK,
|
||
Kiemeney LA,
|
||
Vermeulen SH,
|
||
Wiencke JK,
|
||
Walsh KM,
|
||
Wrensch M,
|
||
Rice T,
|
||
Turnbull C,
|
||
Litchfield K,
|
||
Paternoster L,
|
||
Standl M,
|
||
Abecasis GR,
|
||
SanGiovanni JP,
|
||
Li Y,
|
||
Mijatovic V,
|
||
Sapkota Y,
|
||
Low SK,
|
||
Zondervan KT,
|
||
Montgomery GW,
|
||
Nyholt DR,
|
||
van Heel DA,
|
||
Hunt K,
|
||
Arking DE,
|
||
Ashar FN,
|
||
Sotoodehnia N,
|
||
Woo D,
|
||
Rosand J,
|
||
Comeau ME,
|
||
Brown WM,
|
||
Silverman EK,
|
||
Hokanson JE,
|
||
Cho MH,
|
||
Hui J,
|
||
Ferreira MA,
|
||
Thompson PJ,
|
||
Morrison AC,
|
||
Felix JF,
|
||
Smith NL,
|
||
Christiano AM,
|
||
Petukhova L,
|
||
Betz RC,
|
||
Fan X,
|
||
Zhang X,
|
||
Zhu C,
|
||
Langefeld CD,
|
||
Thompson SD,
|
||
Wang F,
|
||
Lin X,
|
||
Schwartz DA,
|
||
Fingerlin T,
|
||
Rotter JI,
|
||
Cotch MF,
|
||
Jensen RA,
|
||
Munz M,
|
||
Dommisch H,
|
||
Schaefer AS,
|
||
Han F,
|
||
Ollila HM,
|
||
Hillary RP,
|
||
Albagha O,
|
||
Ralston SH,
|
||
Zeng C,
|
||
Zheng W,
|
||
Shu XO,
|
||
Reis A,
|
||
Uebe S,
|
||
Hüffmeier U,
|
||
Kawamura Y,
|
||
Otowa T,
|
||
Sasaki T,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Neuroblastoma%2C%20susceptibility%20to%2C%203%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 (62)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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<div class="portlet_content ln"><span class="medgenPMauthor">Li Y,
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<div class="nl"><a target="_blank" href="/pubmed/30231396">Predicting and Preventing Anthracycline-Related Cardiotoxicity.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Armenian S,
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<span class="bold">PMID: </span><a href="/pubmed/28241208" target="_blank">28241208</a><a href="/pmc/articles/PMC5638008" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24368569">Palmitic acid and ergosta-7,22-dien-3-ol contribute to the apoptotic effect and cell cycle arrest of an extract from Marthasterias glacialis L. in neuroblastoma cells.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Pereira DM,
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Correia-da-Silva G,
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Valentão P,
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Teixeira N,
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<span class="bold">PMID: </span><a href="/pubmed/24368569" target="_blank">24368569</a><a href="/pmc/articles/PMC3917260" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3153235">Childhood cancer in siblings.</a></div>
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||
<div class="portlet_content ln"><span class="medgenPMauthor">Green DM</span><br />
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<span class="medgenPMjournal">Pediatr Hematol Oncol</span>
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1986;3(3):229-39.
|
||
doi: 10.3109/08880018609031222.
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<span class="bold">PMID: </span><a href="/pubmed/3153235" target="_blank">3153235</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Neuroblastoma%2C%20susceptibility%20to%2C%203%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 (103)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
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<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/37608506">Occurrence of Kawasaki disease and neoplasms in temporal proximity-single-center experience and systematic review of literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Banday AZ,
|
||
Babbar A,
|
||
Patra PK,
|
||
Jindal AK,
|
||
Suri D,
|
||
Pandiarajan V,
|
||
Rawat A,
|
||
Gupta A,
|
||
Singh S</span><br />
|
||
<span class="medgenPMjournal">J Trop Pediatr</span>
|
||
2023 Apr 5;69(3)
|
||
doi: 10.1093/tropej/fmad022.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37608506" target="_blank">37608506</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36806312">Neuroimaging features of FOXR2-activated CNS neuroblastoma: A case series and systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shimazaki K,
|
||
Kurokawa R,
|
||
Franson A,
|
||
Kurokawa M,
|
||
Baba A,
|
||
Bou-Maroun L,
|
||
Kim J,
|
||
Moritani T</span><br />
|
||
<span class="medgenPMjournal">J Neuroimaging</span>
|
||
2023 May-Jun;33(3):359-367.
|
||
Epub 2023 Feb 20
|
||
doi: 10.1111/jon.13095.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36806312" target="_blank">36806312</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30837596">The genetic vulnerability to cisplatin ototoxicity: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tserga E,
|
||
Nandwani T,
|
||
Edvall NK,
|
||
Bulla J,
|
||
Patel P,
|
||
Canlon B,
|
||
Cederroth CR,
|
||
Baguley DM</span><br />
|
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<span class="medgenPMjournal">Sci Rep</span>
|
||
2019 Mar 5;9(1):3455.
|
||
doi: 10.1038/s41598-019-40138-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30837596" target="_blank">30837596</a><a href="/pmc/articles/PMC6401165" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Neuroblastoma%2C%20susceptibility%20to%2C%203%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 (3)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
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</div>
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<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
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|
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<div>
|
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|
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<div class="portlet mgSection" id="ID_113">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C2751681%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (24)</a></li>
|
||
<li><a href="/gtr/tests?term=C2751681%5bDISCUI%5d&filter=method%3A3%5F31" target="_blank">Fluorescence in situ hybridization (FISH) (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C2751681%5bDISCUI%5d&filter=method%3A2%5F18" target="_blank">Mutation scanning of select exons (2)</a></li>
|
||
<li><a href="/gtr/tests?term=C2751681%5bDISCUI%5d&filter=method%3A2%5F30" target="_blank">RNA analysis (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C2751681%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (4)</a></li>
|
||
<li><a href="/gtr/tests?term=C2751681%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (27)</a></li>
|
||
<li><a href="/gtr/tests?term=C2751681%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (6)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C2751681%5bDISCUI%5d" target="_blank">See all (36)</a></total></li>
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</ul></div>
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</div>
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<div class="portlet mgSection" id="ID_119">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=613014" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Neuroblastoma,%20susceptibility%20to,%203" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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</div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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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=(neuroblastoma%2C%20susceptibility%20to%2C%203)%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></ul></div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67ca78eef4a390645ea4e31e">Neuroblastoma, susceptibility to, 3</a>
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