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<!--
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||
UID=401431
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||
ConceptID=C1868392
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Pheochromocytoma-islet cell tumor syndrome</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>401431</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.">C1868392</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Pheochromocytoma and islet cell tumor of the pancreas</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0008235" target="_blank">MONDO:0008235</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/171420" target="_blank">171420</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_102">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_18419"><div><strong>Pheochromocytoma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>18419</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.">C0031511</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hereditary paraganglioma-pheochromocytoma (PGL/PCC) syndromes are characterized by paragangliomas (tumors that arise from neuroendocrine tissues distributed along the paravertebral axis from the base of the skull to the pelvis) and pheochromocytomas (paragangliomas that are confined to the adrenal medulla). Sympathetic paragangliomas cause catecholamine excess; parasympathetic paragangliomas are most often nonsecretory. Extra-adrenal parasympathetic paragangliomas are located predominantly in the skull base and neck (referred to as head and neck paragangliomas [HNPGLs]) and sometimes in the upper mediastinum; approximately 95% of such tumors are nonsecretory. In contrast, extra-adrenal sympathetic paragangliomas are generally confined to the lower mediastinum, abdomen, and pelvis, and are typically secretory. Pheochromocytomas, which arise from the adrenal medulla, typically lead to catecholamine excess. Symptoms of PGL/PCCs result from either mass effects or catecholamine hypersecretion (e.g., sustained or paroxysmal elevations in blood pressure, headache, episodic profuse sweating, forceful palpitations, pallor, and apprehension or anxiety). The risk for developing metastatic disease is greater for extra-adrenal sympathetic paragangliomas than for pheochromocytomas. Additional tumors reported in individuals with hereditary PGL/PCC syndromes include gastrointestinal stromal tumors (GISTs), pulmonary chondromas, and clear cell renal cell carcinoma.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/18419">Feature record</a> | <a href="/medgen?term=%22Pheochromocytoma%22%5BClinical%20Features%5D%20OR%2018419%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_10976"><div><strong>Proteinuria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10976</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.">C0033687</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Increased levels of protein in the urine.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/10976">Feature record</a> | <a href="/medgen?term=%22Proteinuria%22%5BClinical%20Features%5D%20OR%2010976%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1841548"><div><strong>Elevated urinary norepinephrine level</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1841548</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.">C5826344</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The concentration of noradrenaline in the urine, normalized for urine concentration, is above the upper limit of normal.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1841548">Feature record</a> | <a href="/medgen?term=%22Elevated%20urinary%20norepinephrine%20level%22%5BClinical%20Features%5D%20OR%201841548%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_9169"><div><strong>Congestive heart failure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>9169</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.">C0018802</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/9169">Feature record</a> | <a href="/medgen?term=%22Congestive%20heart%20failure%22%5BClinical%20Features%5D%20OR%209169%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_21453"><div><strong>Tachycardia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>21453</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.">C0039231</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A rapid heartrate that exceeds the range of the normal resting heartrate for age.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/21453">Feature record</a> | <a href="/medgen?term=%22Tachycardia%22%5BClinical%20Features%5D%20OR%2021453%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_347389"><div><strong>Episodic hypertension</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>347389</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.">C1857175</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/347389">Feature record</a> | <a href="/medgen?term=%22Episodic%20hypertension%22%5BClinical%20Features%5D%20OR%20347389%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_423648"><div><strong>Cerebral hemorrhage</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>423648</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.">C2937358</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hemorrhage into the parenchyma of the brain.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/423648">Feature record</a> | <a href="/medgen?term=%22Cerebral%20hemorrhage%22%5BClinical%20Features%5D%20OR%20423648%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_871125"><div><strong>Positive regitine blocking test</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>871125</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.">C4025594</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A positive response to the regitine blocking test consisting of a substantial reduction in blood pressure following administration of regitine, indicative of the presence of increased levels of epinephrine and norepinephrine in the circulation, which is seen in pheochromocytoma-associated hypertension.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/871125">Feature record</a> | <a href="/medgen?term=%22Positive%20regitine%20blocking%20test%22%5BClinical%20Features%5D%20OR%20871125%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_5686"><div><strong>Hypercalcemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>5686</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.">C0020437</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormally increased calcium concentration in the blood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/5686">Feature record</a> | <a href="/medgen?term=%22Hypercalcemia%22%5BClinical%20Features%5D%20OR%205686%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_5690"><div><strong>Hyperhidrosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>5690</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.">C0020458</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormal excessive perspiration (sweating) despite the lack of appropriate stimuli like hot and humid weather.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/5690">Feature record</a> | <a href="/medgen?term=%22Hyperhidrosis%22%5BClinical%20Features%5D%20OR%205690%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_113157"><div><strong>Cafe-au-lait spot</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>113157</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.">C0221263</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cafe-au-lait spots are hyperpigmented lesions that can vary in color from light brown to dark brown with smooth borders and having a size of 1.5 cm or more in adults and 0.5 cm or more in children.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/113157">Feature record</a> | <a href="/medgen?term=%22Cafe-au-lait%20spot%22%5BClinical%20Features%5D%20OR%20113157%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_348082"><div><strong>Axillary freckling</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>348082</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.">C1860335</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence in the axillary region (armpit) of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/348082">Feature record</a> | <a href="/medgen?term=%22Axillary%20freckling%22%5BClinical%20Features%5D%20OR%20348082%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_101819"><div><strong>Hypertensive retinopathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>101819</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.">C0152132</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Retinopathy due to hypertension.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/101819">Feature record</a> | <a href="/medgen?term=%22Hypertensive%20retinopathy%22%5BClinical%20Features%5D%20OR%20101819%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of metabolism/homeostasis</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_5686" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypercalcemia</a></span></li></ul></li><li><span class="TLline">Abnormality of the cardiovascular system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_423648" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cerebral hemorrhage</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_9169" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congestive heart failure</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_347389" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Episodic hypertension</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_871125" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Positive regitine blocking test</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_21453" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Tachycardia</a></span></li></ul></li><li><span class="TLline">Abnormality of the eye</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_101819" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypertensive retinopathy</a></span></li></ul></li><li><span class="TLline">Abnormality of the genitourinary system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1841548" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Elevated urinary norepinephrine level</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_10976" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Proteinuria</a></span></li></ul></li><li><span class="TLline">Abnormality of the integument</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_348082" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Axillary freckling</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_113157" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cafe-au-lait spot</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_5690" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyperhidrosis</a></span></li></ul></li><li><span class="TLline">Neoplasm</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_18419" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pheochromocytoma</a></span></li></ul></li></ul></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/37604067">European consensus-based interdisciplinary guideline for diagnosis and treatment of basal cell carcinoma-update 2023.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Peris K,
|
||
Fargnoli MC,
|
||
Kaufmann R,
|
||
Arenberger P,
|
||
Bastholt L,
|
||
Seguin NB,
|
||
Bataille V,
|
||
Brochez L,
|
||
Del Marmol V,
|
||
Dummer R,
|
||
Forsea AM,
|
||
Gaudy-Marqueste C,
|
||
Harwood CA,
|
||
Hauschild A,
|
||
Höller C,
|
||
Kandolf L,
|
||
Kellerners-Smeets NWJ,
|
||
Lallas A,
|
||
Leiter U,
|
||
Malvehy J,
|
||
Marinović B,
|
||
Mijuskovic Z,
|
||
Moreno-Ramirez D,
|
||
Nagore E,
|
||
Nathan P,
|
||
Stratigos AJ,
|
||
Stockfleth E,
|
||
Tagliaferri L,
|
||
Trakatelli M,
|
||
Vieira R,
|
||
Zalaudek I,
|
||
Garbe C;
|
||
EADO”A, EDF”B, ESTRO”C, UEMS”D and EADV”E</span><br />
|
||
<span class="medgenPMjournal">Eur J Cancer</span>
|
||
2023 Oct;192:113254.
|
||
Epub 2023 Jul 28
|
||
doi: 10.1016/j.ejca.2023.113254.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37604067" target="_blank">37604067</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36066514">Diagnosis and Treatment of Myelodysplastic Syndromes: A Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sekeres MA,
|
||
Taylor J</span><br />
|
||
<span class="medgenPMjournal">JAMA</span>
|
||
2022 Sep 6;328(9):872-880.
|
||
doi: 10.1001/jama.2022.14578.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36066514" target="_blank">36066514</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34108243">Autoimmune encephalitis: clinical spectrum and management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Uy CE,
|
||
Binks S,
|
||
Irani SR</span><br />
|
||
<span class="medgenPMjournal">Pract Neurol</span>
|
||
2021 Oct;21(5):412-423.
|
||
Epub 2021 Jun 9
|
||
doi: 10.1136/practneurol-2020-002567.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34108243" target="_blank">34108243</a><a href="/pmc/articles/PMC8461404" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(pheochromocytoma-islet%20cell%20tumor%20syndrome)%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 (2988)</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/36737165">Cystic lung disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cabeza Martínez B,
|
||
Giménez Palleiro A,
|
||
Mazzini Florindez SP</span><br />
|
||
<span class="medgenPMjournal">Radiologia (Engl Ed)</span>
|
||
2022 Dec;64 Suppl 3:265-276.
|
||
doi: 10.1016/j.rxeng.2022.09.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36737165" target="_blank">36737165</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35491054">Aplastic anemia: Pathophysiology.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Giudice V,
|
||
Selleri C</span><br />
|
||
<span class="medgenPMjournal">Semin Hematol</span>
|
||
2022 Jan;59(1):13-20.
|
||
Epub 2022 Jan 5
|
||
doi: 10.1053/j.seminhematol.2021.12.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35491054" target="_blank">35491054</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/29478615">Neurofibromatosis type 1.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cimino PJ,
|
||
Gutmann DH</span><br />
|
||
<span class="medgenPMjournal">Handb Clin Neurol</span>
|
||
2018;148:799-811.
|
||
doi: 10.1016/B978-0-444-64076-5.00051-X.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29478615" target="_blank">29478615</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23088440">The trisomy 18 syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cereda A,
|
||
Carey JC</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2012 Oct 23;7:81.
|
||
doi: 10.1186/1750-1172-7-81.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23088440" target="_blank">23088440</a><a href="/pmc/articles/PMC3520824" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Pheochromocytoma-islet%20cell%20tumor%20syndrome%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 (21474)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37055093">Lymphangioleiomyomatosis and Other Cystic Lung Diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Koslow M,
|
||
Lynch DA,
|
||
Cool CD,
|
||
Groshong SD,
|
||
Downey GP</span><br />
|
||
<span class="medgenPMjournal">Immunol Allergy Clin North Am</span>
|
||
2023 May;43(2):359-377.
|
||
doi: 10.1016/j.iac.2023.01.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37055093" target="_blank">37055093</a><a href="/pmc/articles/PMC10863428" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36737165">Cystic lung disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cabeza Martínez B,
|
||
Giménez Palleiro A,
|
||
Mazzini Florindez SP</span><br />
|
||
<span class="medgenPMjournal">Radiologia (Engl Ed)</span>
|
||
2022 Dec;64 Suppl 3:265-276.
|
||
doi: 10.1016/j.rxeng.2022.09.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36737165" target="_blank">36737165</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19476995">Neurofibromatosis type 2.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Asthagiri AR,
|
||
Parry DM,
|
||
Butman JA,
|
||
Kim HJ,
|
||
Tsilou ET,
|
||
Zhuang Z,
|
||
Lonser RR</span><br />
|
||
<span class="medgenPMjournal">Lancet</span>
|
||
2009 Jun 6;373(9679):1974-86.
|
||
Epub 2009 May 22
|
||
doi: 10.1016/S0140-6736(09)60259-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19476995" target="_blank">19476995</a><a href="/pmc/articles/PMC4748851" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12170887">Neurocutaneous disorders.</a></div>
|
||
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<div class="portlet_content ln"><span class="medgenPMauthor">Kershner LJ,
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Choi K,
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Wu J,
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Zhang X,
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Perrino M,
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Salomonis N,
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Shern JF,
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Ratner N</span><br />
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<div class="nl"><a target="_blank" href="/pubmed/35339647">Alternative RNA splicing defects in pediatric cancers: new insights in tumorigenesis and potential therapeutic vulnerabilities.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Venkataramany AS,
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Schieffer KM,
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Lee K,
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Cottrell CE,
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Wang PY,
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Mardis ER,
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Cripe TP,
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Chandler DS</span><br />
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2022 Jun;33(6):578-592.
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<span class="bold">PMID: </span><a href="/pubmed/35339647" target="_blank">35339647</a></div>
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Zhu K,
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Chen Z,
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Meng Z,
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<div class="nl"><a target="_blank" href="/pubmed/34161185">Autophagy in ovary and polycystic ovary syndrome: role, dispute and future perspective.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Kumariya S,
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Ubba V,
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Jha RK,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Pheochromocytoma-islet%20cell%20tumor%20syndrome%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 (15635)</a></div></div>
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<div class="nl"><a target="_blank" href="/pubmed/38977912">A systematic review and meta-analysis of nonrelapse mortality after CAR T cell therapy.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Cordas Dos Santos DM,
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Tix T,
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Shouval R,
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Gafter-Gvili A,
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Alberge JB,
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Cliff ERS,
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Theurich S,
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von Bergwelt-Baildon M,
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Ghobrial IM,
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Subklewe M,
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Perales MA,
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Rejeski K</span><br />
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2024 Sep;30(9):2667-2678.
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Epub 2024 Jul 8
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<span class="bold">PMID: </span><a href="/pubmed/38977912" target="_blank">38977912</a><a href="/pmc/articles/PMC11765209" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/36481378">Diagnosis of mycosis fungoides or Sézary syndrome after dupilumab use: A systematic review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Jfri A,
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<span class="bold">PMID: </span><a href="/pubmed/36481378" target="_blank">36481378</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/36100483">Epidemiology of Renal Cell Carcinoma: 2022 Update.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Bukavina L,
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Bensalah K,
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Bray F,
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Carlo M,
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Challacombe B,
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Karam JA,
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Kassouf W,
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Montironi R,
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<span class="bold">PMID: </span><a href="/pubmed/36100483" target="_blank">36100483</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/34724386">Management of Immune-Related Adverse Events in Patients Treated With Chimeric Antigen Receptor T-Cell Therapy: ASCO Guideline.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Santomasso BD,
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Nastoupil LJ,
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Adkins S,
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Lacchetti C,
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Naidoo J,
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Spira A,
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Swami U,
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<span class="bold">PMID: </span><a href="/pubmed/34724386" target="_blank">34724386</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/32633805">Systemic Amyloidosis Recognition, Prognosis, and Therapy: A Systematic Review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Gertz MA,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Pheochromocytoma-islet%20cell%20tumor%20syndrome%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 (419)</a></div></div>
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