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<meta name="keywords" content="C0017075, gangliocytoma, gangliocytomas, ganglioneuroma, ganglioneuroma (disease), ganglioneuroma (schwannian stroma-dominant), ganglioneuroma, benign, ganglioneuromas, gn, neoplastic process, neural crest tumor, benign, 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 benign neoplasm that usually arises from the sympathetic trunk in the mediastinum, representing a tumor of the sympathetic nerve fibers arising from neural crest cells." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=6545
|
||
ConceptID=C0017075
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Ganglioneuroma</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6545</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.">C0017075</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Gangliocytoma; Gangliocytomas; Ganglioneuromas</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Ganglioneuroma (116371000119107); Ganglioneuroma (53801007)</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:0003005">HP:0003005</a></td></tr>
|
||
<tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0005033" target="_blank">MONDO:0005033</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=251992">ORPHA251992</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">A benign neoplasm that usually arises from the sympathetic trunk in the mediastinum, representing a tumor of the sympathetic nerve fibers arising from neural crest cells. [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>
|
||
<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="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0017075[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=6545">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 unavailable" title="ClinVar">V</span></span><span class="TLline">Ganglioneuroma</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/474891" ref="tree=MeSH" title="MedGen record for Congenital Systemic Disorder">Congenital Systemic Disorder</a></span><ul><li><span class="TLline"><a href="/medgen/105425" ref="tree=MeSH" title="MedGen record for Abnormality of the nervous system">Abnormality of the nervous system</a></span><ul><li><span class="TLline"><a href="/medgen/868416" ref="tree=MeSH" title="MedGen record for Abnormal nervous system morphology">Abnormal nervous system morphology</a></span><ul><li><span class="TLline"><a href="/medgen/45046" ref="tree=MeSH" title="MedGen record for Neoplasm of the nervous system">Neoplasm of the nervous system</a></span><ul><li><span class="TLline"><a href="/medgen/45817" ref="tree=MeSH" title="MedGen record for Neoplasm of the peripheral nervous system">Neoplasm of the peripheral nervous system</a></span><ul><li><span class="TLline"><a href="/medgen/231389" ref="tree=MeSH" title="MedGen record for Autonomic nervous system neoplasm">Autonomic nervous system neoplasm</a></span><ul><li><span class="matched_ds">Ganglioneuroma</span><ul><li><span class="TLline"><a href="/medgen/474470" ref="tree=MeSH" title="MedGen record for Colorectal Ganglioneuroma">Colorectal Ganglioneuroma</a></span><ul><li><span class="TLline"><a href="/medgen/232085" ref="tree=MeSH" title="MedGen record for Colon Ganglioneuroma">Colon Ganglioneuroma</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/91077" ref="tree=MeSH" title="MedGen record for Cutaneous ganglioneuroma">Cutaneous ganglioneuroma</a></span></li><li><span class="TLline"><a href="/medgen/90813" ref="tree=MeSH" title="MedGen record for Ganglioneuromatosis">Ganglioneuromatosis</a></span></li><li><span class="TLline"><a href="/medgen/310851" ref="tree=MeSH" title="MedGen record for Hypothalamic Gangliocytoma">Hypothalamic Gangliocytoma</a></span></li><li><span class="TLline"><a href="/medgen/268638" ref="tree=MeSH" title="MedGen record for Mature Ganglioneuroma">Mature Ganglioneuroma</a></span></li><li><span class="TLline"><a href="/medgen/269163" ref="tree=MeSH" title="MedGen record for Maturing Ganglioneuroma">Maturing Ganglioneuroma</a></span></li><li><span class="TLline"><a href="/medgen/277349" ref="tree=MeSH" title="MedGen record for Mediastinal Ganglioneuroma">Mediastinal Ganglioneuroma</a></span></li><li><span class="TLline"><a href="/medgen/1621979" ref="tree=MeSH" title="MedGen record for Presacral ganglioneuroma">Presacral ganglioneuroma</a></span></li><li><span class="TLline"><a href="/medgen/1792737" ref="tree=MeSH" title="MedGen record for Recurrent Gangliocytoma">Recurrent Gangliocytoma</a></span></li><li><span class="TLline"><a href="/medgen/233405" ref="tree=MeSH" title="MedGen record for Retroperitoneal Ganglioneuroma">Retroperitoneal Ganglioneuroma</a></span><ul><li><span class="TLline"><a href="/medgen/1678845" ref="tree=MeSH" title="MedGen record for Adrenal Gland Ganglioneuroma">Adrenal Gland Ganglioneuroma</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></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=19708&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Ganglioneuroma</span> in Orphanet.</div></div></div>
|
||
</div>
|
||
|
||
<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>
|
||
<div class="portlet_content ln clinfeat">
|
||
<div class="divPopper rprt" id="rdis_9959"><div><strong>Multiple endocrine neoplasia type 2B</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>9959</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.">C0025269</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Multiple endocrine neoplasia type 2 (MEN2) includes the following phenotypes: MEN2A, familial medullary thyroid carcinoma (FMTC, which may be a variant of MEN2A), and MEN2B. All three phenotypes involve high risk for development of medullary carcinoma of the thyroid (MTC); MEN2A and MEN2B involve an increased risk for pheochromocytoma; MEN2A involves an increased risk for parathyroid adenoma or hyperplasia. Additional features of MEN2B include mucosal neuromas of the lips and tongue, distinctive facies with enlarged lips, ganglioneuromatosis of the gastrointestinal tract, and a marfanoid habitus. MTC typically occurs in early childhood in MEN2B, early adulthood in MEN2A, and middle age in FMTC.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/9959">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_412713"><div><strong>Neuroblastoma, susceptibility to, 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>412713</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.">C2749485</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/412713">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_416607"><div><strong>Neuroblastoma, susceptibility to, 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>416607</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.">C2751682</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">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.\n\nIndividuals 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.\n\nNeuroblastoma occurs most often in children before age 5 and rarely occurs in adults.\n\nNeuroblastoma 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.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/416607">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1794285"><div><strong>Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794285</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.">C5562075</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Congenital central hypoventilation syndrome (CCHS) represents the extreme manifestation of autonomic nervous system dysregulation (ANSD) with the hallmark of disordered respiratory control. The age of initial recognition of CCHS ranges from neonatal onset (i.e., in the first 30 days of life) to (less commonly) later onset (from 1 month to adulthood). Neonatal-onset CCHS is characterized by apparent hypoventilation with monotonous respiratory rates and shallow breathing either during sleep only or while awake as well as asleep; ANSD including decreased heart rate beat-to-beat variability and sinus pauses; altered temperature regulation; and altered pupillary response to light. Some children have altered development of neural crest-derived structures (i.e., Hirschsprung disease, altered esophageal motility/dysphagia, and severe constipation even in the absence of Hirschsprung disease) and/or tumors of neural crest origin (neuroblastoma, ganglioneuroma, and ganglioneuroblastoma). Neurocognitive delay is variable, and possibly influenced by cyanotic breath holding, prolonged sinus pauses, need for 24-hour/day artificial ventilation, and seizures. Later-onset CCHS is characterized by alveolar hypoventilation during sleep and attenuated manifestations of ANSD.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1794285">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1794285" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_9959" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Multiple endocrine neoplasia type 2B</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_412713" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neuroblastoma, susceptibility to, 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_416607" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neuroblastoma, susceptibility to, 2</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/32914730">Molecular Diagnosis and Treatment of Multiple Endocrine Neoplasia Type 2B in Ethnic Han Chinese.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhang ZW,
|
||
Guo X,
|
||
Qi XP</span><br />
|
||
<span class="medgenPMjournal">Endocr Metab Immune Disord Drug Targets</span>
|
||
2021;21(3):534-543.
|
||
doi: 10.2174/1871530320666200910112230.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32914730" target="_blank">32914730</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27465021">Treatment and outcome of Ganglioneuroma and Ganglioneuroblastoma intermixed.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Decarolis B,
|
||
Simon T,
|
||
Krug B,
|
||
Leuschner I,
|
||
Vokuhl C,
|
||
Kaatsch P,
|
||
von Schweinitz D,
|
||
Klingebiel T,
|
||
Mueller I,
|
||
Schweigerer L,
|
||
Berthold F,
|
||
Hero B</span><br />
|
||
<span class="medgenPMjournal">BMC Cancer</span>
|
||
2016 Jul 27;16:542.
|
||
doi: 10.1186/s12885-016-2513-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27465021" target="_blank">27465021</a><a href="/pmc/articles/PMC4964292" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/13278768">Spinal ganglioneuroma; end results and differential diagnosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">SCOVILLE WB,
|
||
POLCYN JL,
|
||
DUNSMORE RH</span><br />
|
||
<span class="medgenPMjournal">J Neuropathol Exp Neurol</span>
|
||
1956 Jan;15(1):85-91; discussion, 91-2.
|
||
doi: 10.1097/00005072-195601000-00008.
|
||
<span class="bold">PMID: </span><a href="/pubmed/13278768" target="_blank">13278768</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22ganglioneuroma%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 (25)</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/35285002">Overview of the 2022 WHO Classification of Paragangliomas and Pheochromocytomas.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mete O,
|
||
Asa SL,
|
||
Gill AJ,
|
||
Kimura N,
|
||
de Krijger RR,
|
||
Tischler A</span><br />
|
||
<span class="medgenPMjournal">Endocr Pathol</span>
|
||
2022 Mar;33(1):90-114.
|
||
Epub 2022 Mar 13
|
||
doi: 10.1007/s12022-022-09704-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35285002" target="_blank">35285002</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34167847">Mediastinal neuroblastoma, ganglioneuroblastoma, and ganglioneuroma: Pathology review and diagnostic approach.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Choi JH,
|
||
Ro JY</span><br />
|
||
<span class="medgenPMjournal">Semin Diagn Pathol</span>
|
||
2022 Mar;39(2):120-130.
|
||
Epub 2021 Jun 15
|
||
doi: 10.1053/j.semdp.2021.06.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34167847" target="_blank">34167847</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33812987">Multiple endocrine neoplasia type 2: A review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mathiesen JS,
|
||
Effraimidis G,
|
||
Rossing M,
|
||
Rasmussen ÅK,
|
||
Hoejberg L,
|
||
Bastholt L,
|
||
Godballe C,
|
||
Oturai P,
|
||
Feldt-Rasmussen U</span><br />
|
||
<span class="medgenPMjournal">Semin Cancer Biol</span>
|
||
2022 Feb;79:163-179.
|
||
Epub 2021 Apr 1
|
||
doi: 10.1016/j.semcancer.2021.03.035.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33812987" target="_blank">33812987</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17764452">Pelvic ganglioneuroma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Guzin K,
|
||
Afsar S,
|
||
Yigit A,
|
||
Eren SA,
|
||
Ozerden E,
|
||
Kanadikirik F</span><br />
|
||
<span class="medgenPMjournal">Int J Gynecol Cancer</span>
|
||
2008 May-Jun;18(3):553-6.
|
||
doi: 10.1111/j.1525-1438.2007.01047.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17764452" target="_blank">17764452</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12110723">Neuroblastoma, ganglioneuroblastoma, and ganglioneuroma: radiologic-pathologic correlation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lonergan GJ,
|
||
Schwab CM,
|
||
Suarez ES,
|
||
Carlson CL</span><br />
|
||
<span class="medgenPMjournal">Radiographics</span>
|
||
2002 Jul-Aug;22(4):911-34.
|
||
doi: 10.1148/radiographics.22.4.g02jl15911.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12110723" target="_blank">12110723</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Ganglioneuroma%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 (454)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34167847">Mediastinal neuroblastoma, ganglioneuroblastoma, and ganglioneuroma: Pathology review and diagnostic approach.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Choi JH,
|
||
Ro JY</span><br />
|
||
<span class="medgenPMjournal">Semin Diagn Pathol</span>
|
||
2022 Mar;39(2):120-130.
|
||
Epub 2021 Jun 15
|
||
doi: 10.1053/j.semdp.2021.06.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34167847" target="_blank">34167847</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22790473">Adrenal ganglioneuroma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tarantino RM,
|
||
Lacerda AM,
|
||
Cunha Neto SH,
|
||
Violante AH,
|
||
Vaisman M</span><br />
|
||
<span class="medgenPMjournal">Arq Bras Endocrinol Metabol</span>
|
||
2012 Jun;56(4):270-4.
|
||
doi: 10.1590/s0004-27302012000400009.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22790473" target="_blank">22790473</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22138290">Sacral ganglioneuroma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Elkaoui H,
|
||
Bounaim A,
|
||
Ait Ali A,
|
||
Zentar A,
|
||
Sair K</span><br />
|
||
<span class="medgenPMjournal">Presse Med</span>
|
||
2012 Jun;41(6 Pt 1):672-4.
|
||
Epub 2011 Dec 3
|
||
doi: 10.1016/j.lpm.2011.06.026.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22138290" target="_blank">22138290</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17764452">Pelvic ganglioneuroma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Guzin K,
|
||
Afsar S,
|
||
Yigit A,
|
||
Eren SA,
|
||
Ozerden E,
|
||
Kanadikirik F</span><br />
|
||
<span class="medgenPMjournal">Int J Gynecol Cancer</span>
|
||
2008 May-Jun;18(3):553-6.
|
||
doi: 10.1111/j.1525-1438.2007.01047.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17764452" target="_blank">17764452</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7350889">Colonic ganglioneuroma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bibro MC,
|
||
Houlihan RK,
|
||
Sheahan DG</span><br />
|
||
<span class="medgenPMjournal">Arch Surg</span>
|
||
1980 Jan;115(1):75-7.
|
||
doi: 10.1001/archsurg.1980.01380010063013.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7350889" target="_blank">7350889</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Ganglioneuroma%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 (1110)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/23378871">Imaging characteristics of an unusual, high-grade angiocentric glioma: a case report and review of the literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Aguilar HN,
|
||
Hung RW,
|
||
Mehta V,
|
||
Kotylak T</span><br />
|
||
<span class="medgenPMjournal">J Radiol Case Rep</span>
|
||
2012 Oct;6(10):1-10.
|
||
Epub 2012 Oct 1
|
||
doi: 10.3941/jrcr.v6i10.1134.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23378871" target="_blank">23378871</a><a href="/pmc/articles/PMC3558271" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7421294">Intrathoracic ganglioneuroblastoma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zajtchuk R,
|
||
Bowen TE,
|
||
Seyfer AE,
|
||
Brott WH</span><br />
|
||
<span class="medgenPMjournal">J Thorac Cardiovasc Surg</span>
|
||
1980 Oct;80(4):605-12.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7421294" target="_blank">7421294</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/4361606">Endocrine surgery in children.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schwartz DL,
|
||
Gann DS,
|
||
Haller JA Jr</span><br />
|
||
<span class="medgenPMjournal">Surg Clin North Am</span>
|
||
1974 Apr;54(2):363-85.
|
||
doi: 10.1016/s0039-6109(16)40285-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/4361606" target="_blank">4361606</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/4589383">Pheochromocytoma: advances in diagnosis and treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pertsemlidis D,
|
||
Gitlow SE,
|
||
Kark AE</span><br />
|
||
<span class="medgenPMjournal">Surg Annu</span>
|
||
1972;4:345-57.
|
||
<span class="bold">PMID: </span><a href="/pubmed/4589383" target="_blank">4589383</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/4327710">Complications of mediastinal neural tumours.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Parish C</span><br />
|
||
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|
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|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Ganglioneuroma%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 (124)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35285002">Overview of the 2022 WHO Classification of Paragangliomas and Pheochromocytomas.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mete O,
|
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Asa SL,
|
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Gill AJ,
|
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Kimura N,
|
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de Krijger RR,
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Tischler A</span><br />
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<span class="medgenPMjournal">Endocr Pathol</span>
|
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2022 Mar;33(1):90-114.
|
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Epub 2022 Mar 13
|
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doi: 10.1007/s12022-022-09704-6.
|
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<span class="bold">PMID: </span><a href="/pubmed/35285002" target="_blank">35285002</a></div>
|
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|
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<div class="nl"><a target="_blank" href="/pubmed/33812987">Multiple endocrine neoplasia type 2: A review.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Mathiesen JS,
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Effraimidis G,
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Rossing M,
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Rasmussen ÅK,
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Hoejberg L,
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2022 Feb;79:163-179.
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doi: 10.1016/j.semcancer.2021.03.035.
|
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<span class="bold">PMID: </span><a href="/pubmed/33812987" target="_blank">33812987</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/32407531">ROHHAD(NET) Syndrome: Systematic Review of the Clinical Timeline and Recommendations for Diagnosis and Prognosis.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Harvengt J,
|
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Gernay C,
|
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Mastouri M,
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Farhat N,
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Lebrethon MC,
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Seghaye MC,
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Bours V</span><br />
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<span class="medgenPMjournal">J Clin Endocrinol Metab</span>
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2020 Jul 1;105(7)
|
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doi: 10.1210/clinem/dgaa247.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32407531" target="_blank">32407531</a></div>
|
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||
<div class="nl"><a target="_blank" href="/pubmed/12110723">Neuroblastoma, ganglioneuroblastoma, and ganglioneuroma: radiologic-pathologic correlation.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Lonergan GJ,
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Schwab CM,
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2002 Jul-Aug;22(4):911-34.
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doi: 10.1148/radiographics.22.4.g02jl15911.
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<span class="bold">PMID: </span><a href="/pubmed/12110723" target="_blank">12110723</a></div>
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|
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<div class="nl"><a target="_blank" href="/pubmed/3572236">Cervical ganglioneuroblastoma.</a></div>
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|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Ganglioneuroma%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 (453)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
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<div class="nl"><a target="_blank" href="/pubmed/35306201">Spinal Ganglioneuroma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Goldberg JL,
|
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Tong J,
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McGrath LB Jr</span><br />
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<span class="medgenPMjournal">World Neurosurg</span>
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2022 Jun;162:15-16.
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Epub 2022 Mar 17
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doi: 10.1016/j.wneu.2022.03.046.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35306201" target="_blank">35306201</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35285002">Overview of the 2022 WHO Classification of Paragangliomas and Pheochromocytomas.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mete O,
|
||
Asa SL,
|
||
Gill AJ,
|
||
Kimura N,
|
||
de Krijger RR,
|
||
Tischler A</span><br />
|
||
<span class="medgenPMjournal">Endocr Pathol</span>
|
||
2022 Mar;33(1):90-114.
|
||
Epub 2022 Mar 13
|
||
doi: 10.1007/s12022-022-09704-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35285002" target="_blank">35285002</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33183724">New Prognostic Indicators in Pediatric Adrenal Tumors: Neuroblastoma and Adrenal Cortical Tumors, Can We Predict When These Will Behave Badly?</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Jarzembowski JA</span><br />
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<span class="medgenPMjournal">Surg Pathol Clin</span>
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2020 Dec;13(4):625-641.
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<span class="bold">PMID: </span><a href="/pubmed/33183724" target="_blank">33183724</a></div>
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<span class="bold">PMID: </span><a href="/pubmed/3035922" target="_blank">3035922</a></div>
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||
<div class="nl"><a target="_blank" href="/pubmed/7350889">Colonic ganglioneuroma.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Bibro MC,
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Houlihan RK,
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<span class="bold">PMID: </span><a href="/pubmed/7350889" target="_blank">7350889</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Ganglioneuroma%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 (281)</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/37659751">Spinal Ganglioneuroma: A Systematic Review of the Literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yousefi O,
|
||
Saghebdoust S,
|
||
Abdollahifard S,
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||
Motlagh MA,
|
||
Farrokhi MR,
|
||
Motiei-Langroudi R,
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Mousavi SR</span><br />
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<span class="medgenPMjournal">World Neurosurg</span>
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2023 Dec;180:163-168.e7.
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Epub 2023 Sep 1
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||
doi: 10.1016/j.wneu.2023.08.057.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37659751" target="_blank">37659751</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33721367">Presentation and outcomes of adrenal ganglioneuromas: A cohort study and a systematic review of literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dages KN,
|
||
Kohlenberg JD,
|
||
Young WF Jr,
|
||
Murad MH,
|
||
Prokop L,
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||
Rivera M,
|
||
Dy B,
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Foster T,
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Lyden M,
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McKenzie T,
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||
Thompson G,
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||
Bancos I</span><br />
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||
<span class="medgenPMjournal">Clin Endocrinol (Oxf)</span>
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||
2021 Jul;95(1):47-57.
|
||
Epub 2021 Mar 22
|
||
doi: 10.1111/cen.14460.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33721367" target="_blank">33721367</a><a href="/pmc/articles/PMC8178203" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32407531">ROHHAD(NET) Syndrome: Systematic Review of the Clinical Timeline and Recommendations for Diagnosis and Prognosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Harvengt J,
|
||
Gernay C,
|
||
Mastouri M,
|
||
Farhat N,
|
||
Lebrethon MC,
|
||
Seghaye MC,
|
||
Bours V</span><br />
|
||
<span class="medgenPMjournal">J Clin Endocrinol Metab</span>
|
||
2020 Jul 1;105(7)
|
||
doi: 10.1210/clinem/dgaa247.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32407531" target="_blank">32407531</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27899172">Identification of intestinal ganglioneuromatosis leads to early diagnosis of MEN2B: role of rectal biopsy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gfroerer S,
|
||
Theilen TM,
|
||
Fiegel H,
|
||
Harter PN,
|
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Mittelbronn M,
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Rolle U</span><br />
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<span class="medgenPMjournal">J Pediatr Surg</span>
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2017 Jul;52(7):1161-1165.
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Epub 2016 Nov 17
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||
doi: 10.1016/j.jpedsurg.2016.10.054.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27899172" target="_blank">27899172</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22325405">Minimally invasive adrenalectomy in children.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Heloury Y,
|
||
Muthucumaru M,
|
||
Panabokke G,
|
||
Cheng W,
|
||
Kimber C,
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<span class="medgenPMjournal">J Pediatr Surg</span>
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2012 Feb;47(2):415-21.
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||
<span class="bold">PMID: </span><a href="/pubmed/22325405" target="_blank">22325405</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Ganglioneuroma%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 (14)</a></div></div>
|
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|
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|
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|
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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=C0017075%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (1)</a></li>
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<li><a href="/gtr/tests?term=C0017075%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (1)</a></li>
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0017075%5bDISCUI%5d" target="_blank">See all (1)</a></total></li>
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