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<meta name="keywords" content="C0007279, carotid body chemodectoma, carotid body paraganglioma, carotid body paragangliomas, carotid body tumor, carotid body tumors, carotid body tumour, chemodectoma, chemodectoma, undetermined, chemodectomas, neoplasm of carotid body, neoplastic process, paraganglioma of carotid body, paraganglioma of the carotid body, paraganglioma, carotid body, paraganglioma, carotid body, somatic, paragangliomas, carotid body, tumor of carotid body, tumor of the carotid body, tumor, carotid body, tumors, carotid body, tumour of carotid body, tumour of the carotid body, 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="Pheochromocytoma/paraganglioma syndrome-1 (PPGL1) is an autosomal dominant disorder characterized by the development of neuroendocrine tumors, usually in adulthood. Pheochromocytomas arise from chromaffin cells in the adrenal medulla, whereas paragangliomas arise in extra-adrenal sympathetic ganglia in the thorax, abdomen, and pelvis or from parasympathetic paraganglia in the head and neck area (summary by Cascon et al., 2023).&#13; Paragangliomas, also referred to as 'glomus body tumors,' are tumors derived from paraganglia located throughout the body. Nonchromaffin types primarily serve as chemoreceptors (hence, the tumor name 'chemodectomas') and are located in the head and neck region (i.e., carotid body, jugular, vagal, and tympanic regions), whereas chromaffin types have endocrine activity, conventionally referred to as 'pheochromocytomas,' and are usually located below the head and neck (i.e., adrenal medulla and pre- and paravertebral thoracoabdominal regions). PPGL can manifest as nonchromaffin head and neck tumors only, adrenal and/or extraadrenal pheochromocytomas only, or a combination of the 2 types of tumors (Baysal, 2002; Neumann et al., 2004).&#13; The triad of gastric leiomyosarcoma, pulmonary chondroma, and extraadrenal paraganglioma constitutes a syndrome that occurs mainly in young women and is known as the Carney triad (604287). This triad is not to be confused with the other Carney syndrome of myxoma, spotty pigmentation, and endocrinopathy (160980).&#13; Baysal (2008) provided a review of the molecular pathogenesis of hereditary paraganglioma.&#13; Genetic Heterogeneity of Pheochromocytoma/Paraganglioma Syndrome&#13; See also PPGL2 (601650), caused by mutation in the SDHAF2 gene (613019) on chromosome 11q13; PPGL3 (605373), caused by mutation in the SDHC gene (602413) on chromosome 1q21; PPGL4 (115310), caused by mutation in the SDHB gene (185470) on chromosome 1p36; PPGL5 (614165), caused by mutation in the SDHA gene (600857) on chromosome 5p15; PPGL6 (618464), caused by mutation in the SLC25A11 gene (604165) on chromosome 17p13; and PPGL7 (618475), caused by mutation in the DLST gene (126063) on chromosome 14q24." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
UID=2853
ConceptID=C0007279
-->
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Carotid body paraganglioma</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>2853</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)&#10;Click for more information.">C0007279</a></dd><dt><span class="dotprefix"></span></dt><dd>Neoplastic Process</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
<td>CAROTID BODY TUMORS; Chemodectoma; Paraganglioma, carotid body, somatic</td></tr>
<tr><td><span class="bold">SNOMED CT: </span></td>
<td>Neoplasm of carotid body (127028003); Carotid body tumor (30699005); Carotid body paraganglioma (30699005)</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:0030074">HP:0030074</a></td></tr>
<tr><td>Monarch Initiative:</td>
<td><a href="https://monarchinitiative.org/disease/MONDO:0021053" target="_blank">MONDO:0021053</a></td></tr>
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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">Pheochromocytoma/paraganglioma syndrome-1 (PPGL1) is an autosomal dominant disorder characterized by the development of neuroendocrine tumors, usually in adulthood. Pheochromocytomas arise from chromaffin cells in the adrenal medulla, whereas paragangliomas arise in extra-adrenal sympathetic ganglia in the thorax, abdomen, and pelvis or from parasympathetic paraganglia in the head and neck area (summary by Cascon et al., 2023).&#13; Paragangliomas, also referred to as 'glomus body tumors,' are tumors derived from paraganglia located throughout the body. Nonchromaffin types primarily serve as chemoreceptors (hence, the tumor name 'chemodectomas') and are located in the head and neck region (i.e., carotid body, jugular, vagal, and tympanic regions), whereas chromaffin types have endocrine activity, conventionally referred to as 'pheochromocytomas,' and are usually located below the head and neck (i.e., adrenal medulla and pre- and paravertebral thoracoabdominal regions). PPGL can manifest as nonchromaffin head and neck tumors only, adrenal and/or extraadrenal pheochromocytomas only, or a combination of the 2 types of tumors (Baysal, 2002; Neumann et al., 2004).&#13; The triad of gastric leiomyosarcoma, pulmonary chondroma, and extraadrenal paraganglioma constitutes a syndrome that occurs mainly in young women and is known as the Carney triad (604287). This triad is not to be confused with the other Carney syndrome of myxoma, spotty pigmentation, and endocrinopathy (160980).&#13; Baysal (2008) provided a review of the molecular pathogenesis of hereditary paraganglioma.&#13; Genetic Heterogeneity of Pheochromocytoma/Paraganglioma Syndrome&#13; See also PPGL2 (601650), caused by mutation in the SDHAF2 gene (613019) on chromosome 11q13; PPGL3 (605373), caused by mutation in the SDHC gene (602413) on chromosome 1q21; PPGL4 (115310), caused by mutation in the SDHB gene (185470) on chromosome 1p36; PPGL5 (614165), caused by mutation in the SDHA gene (600857) on chromosome 5p15; PPGL6 (618464), caused by mutation in the SLC25A11 gene (604165) on chromosome 17p13; and PPGL7 (618475), caused by mutation in the DLST gene (126063) on chromosome 14q24. [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
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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></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 unavailable round" title="Clinical test">C</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">Carotid body paraganglioma</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/21047" ref="tree=MeSH" title="MedGen record for Pathological Conditions, Signs and Symptoms">Pathological Conditions, Signs and Symptoms</a></span><ul><li><span class="TLline"><a href="/medgen/18325" ref="tree=MeSH" title="MedGen record for Pathological process">Pathological process</a></span><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/18289" ref="tree=MeSH" title="MedGen record for Extra-Adrenal Paraganglioma">Extra-Adrenal Paraganglioma</a></span><ul><li><span class="matched_ds">Carotid body paraganglioma</span><ul><li><span class="TLline"><a href="/medgen/396868" ref="tree=MeSH" title="MedGen record for Benign carotid body paraganglioma">Benign carotid body paraganglioma</a></span></li><li><span class="TLline"><a href="/medgen/56318" ref="tree=MeSH" title="MedGen record for Malignant carotid body paraganglioma">Malignant carotid body paraganglioma</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln clinfeat">
<div class="divPopper rprt" id="rdis_340200"><div><strong>Paragangliomas 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>340200</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)&#10;Click for more information.">C1854336</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</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/340200">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_349380"><div><strong>Paragangliomas 4</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>349380</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)&#10;Click for more information.">C1861848</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</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/349380">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_357076"><div><strong>Paragangliomas 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>357076</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)&#10;Click for more information.">C1866552</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</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/357076">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_488134"><div><strong>Paragangliomas 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>488134</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)&#10;Click for more information.">C3494181</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/488134">Condition Record</a></div></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_488134" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Paragangliomas 1</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_357076" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Paragangliomas 2</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_340200" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Paragangliomas 3</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_349380" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Paragangliomas 4</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/26861230">Head and Neck Paragangliomas: An Update on Evaluation and Management.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Moore MG,
Netterville JL,
Mendenhall WM,
Isaacson B,
Nussenbaum B</span><br />
<span class="medgenPMjournal">Otolaryngol Head Neck Surg</span>
2016 Apr;154(4):597-605.
Epub 2016 Feb 9
doi: 10.1177/0194599815627667.
<span class="bold">PMID: </span><a href="/pubmed/26861230" target="_blank">26861230</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22carotid%20body%20paraganglioma%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 (1)</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/39152686">Extra-Adrenal Paraganglioma on Fine-Needle Aspiration Cytology: A Case Series.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Atiq A,
Rafique Z,
Lone UM,
Bashir A,
Khan FW,
Chughtai AS</span><br />
<span class="medgenPMjournal">Diagn Cytopathol</span>
2024 Dec;52(12):E275-E278.
Epub 2024 Aug 17
doi: 10.1002/dc.25397.
<span class="bold">PMID: </span><a href="/pubmed/39152686" target="_blank">39152686</a></div>
<div class="nl"><a target="_blank" href="/pubmed/38651551">Microsurgery in carotid body paraganglioma.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Mazzoni A,
Franz L,
Zanoletti E</span><br />
<span class="medgenPMjournal">Acta Otorhinolaryngol Ital</span>
2024 Apr;44(2):76-82.
doi: 10.14639/0392-100X-N2761.
<span class="bold">PMID: </span><a href="/pubmed/38651551" target="_blank">38651551</a><a href="/pmc/articles/PMC11042556" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34255389">Paraganglioma and other tumour detection rates in individuals with SDHx pathogenic variants by age of diagnosis and after the age of 50.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Greenberg SE,
Holman R,
Kohlmann W,
Buchmann L,
Naumer A</span><br />
<span class="medgenPMjournal">Clin Endocrinol (Oxf)</span>
2021 Sep;95(3):447-452.
Epub 2021 Jul 22
doi: 10.1111/cen.14559.
<span class="bold">PMID: </span><a href="/pubmed/34255389" target="_blank">34255389</a></div>
<div class="nl"><a target="_blank" href="/pubmed/26861230">Head and Neck Paragangliomas: An Update on Evaluation and Management.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Moore MG,
Netterville JL,
Mendenhall WM,
Isaacson B,
Nussenbaum B</span><br />
<span class="medgenPMjournal">Otolaryngol Head Neck Surg</span>
2016 Apr;154(4):597-605.
Epub 2016 Feb 9
doi: 10.1177/0194599815627667.
<span class="bold">PMID: </span><a href="/pubmed/26861230" target="_blank">26861230</a></div>
<div class="nl"><a target="_blank" href="/pubmed/16320027">Familial paraganglioma.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Işik AC,
Erem C,
Imamoğlu M,
Cinel A,
Sari A,
Maral G</span><br />
<span class="medgenPMjournal">Eur Arch Otorhinolaryngol</span>
2006 Jan;263(1):23-31.
Epub 2005 Nov 30
doi: 10.1007/s00405-004-0885-y.
<span class="bold">PMID: </span><a href="/pubmed/16320027" target="_blank">16320027</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Carotid%20body%20paraganglioma%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 (20)</a></div><h3 class="subhead">Diagnosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/37484598">Carotid body paraganglioma: a case report.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Jadhav SS,
Dhok AP,
Mitra KR</span><br />
<span class="medgenPMjournal">Pan Afr Med J</span>
2023;44:182.
Epub 2023 Apr 19
doi: 10.11604/pamj.2023.44.182.38636.
<span class="bold">PMID: </span><a href="/pubmed/37484598" target="_blank">37484598</a><a href="/pmc/articles/PMC10362654" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/35867988">Bone Metastasis of Glomus Caroticum Demonstrated on 68 Ga-DOTATATE PET/CT.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Kesim S,
Sen F,
Filizoglu N,
Ozguven S,
Erdil TY</span><br />
<span class="medgenPMjournal">Clin Nucl Med</span>
2022 Nov 1;47(11):e706-e707.
Epub 2022 Jul 26
doi: 10.1097/RLU.0000000000004333.
<span class="bold">PMID: </span><a href="/pubmed/35867988" target="_blank">35867988</a></div>
<div class="nl"><a target="_blank" href="/pubmed/26861230">Head and Neck Paragangliomas: An Update on Evaluation and Management.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Moore MG,
Netterville JL,
Mendenhall WM,
Isaacson B,
Nussenbaum B</span><br />
<span class="medgenPMjournal">Otolaryngol Head Neck Surg</span>
2016 Apr;154(4):597-605.
Epub 2016 Feb 9
doi: 10.1177/0194599815627667.
<span class="bold">PMID: </span><a href="/pubmed/26861230" target="_blank">26861230</a></div>
<div class="nl"><a target="_blank" href="/pubmed/16320027">Familial paraganglioma.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Işik AC,
Erem C,
Imamoğlu M,
Cinel A,
Sari A,
Maral G</span><br />
<span class="medgenPMjournal">Eur Arch Otorhinolaryngol</span>
2006 Jan;263(1):23-31.
Epub 2005 Nov 30
doi: 10.1007/s00405-004-0885-y.
<span class="bold">PMID: </span><a href="/pubmed/16320027" target="_blank">16320027</a></div>
<div class="nl"><a target="_blank" href="/pubmed/2674475">Color flow Doppler of carotid body paraganglioma.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Shulak JM,
O'Donovan PB,
Paushter DM,
Lanzieri CF</span><br />
<span class="medgenPMjournal">J Ultrasound Med</span>
1989 Sep;8(9):519-21.
doi: 10.7863/jum.1989.8.9.519.
<span class="bold">PMID: </span><a href="/pubmed/2674475" target="_blank">2674475</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Carotid%20body%20paraganglioma%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 (52)</a></div><h3 class="subhead">Therapy</h3>
<div class="nl"><a target="_blank" href="/pubmed/37976428">Complete Response to 177 Lu-DOTATATE PRRT in a 9-Year-Old Child With Metastatic Carotid Body Paraganglioma.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Yadav MP,
Raju S,
Ballal S,
Bal C</span><br />
<span class="medgenPMjournal">Clin Nucl Med</span>
2024 Jan 1;49(1):e33-e34.
Epub 2023 Nov 16
doi: 10.1097/RLU.0000000000004929.
<span class="bold">PMID: </span><a href="/pubmed/37976428" target="_blank">37976428</a></div>
<div class="nl"><a target="_blank" href="/pubmed/23406710">Double osteotomy of mandibula in the treatment of carotid body tumors with skull base extension.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Prouse G,
Mazzaccaro D,
Settembrini F,
Carmo M,
Biglioli F,
Settembrini PG</span><br />
<span class="medgenPMjournal">J Vasc Surg</span>
2013 Aug;58(2):486-90.
Epub 2013 Feb 11
doi: 10.1016/j.jvs.2012.11.086.
<span class="bold">PMID: </span><a href="/pubmed/23406710" target="_blank">23406710</a></div>
<div class="nl"><a target="_blank" href="/pubmed/12199171">Temporary balloon occlusion and ethanol injection for preoperative embolization of carotid-body tumor.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Horowitz M,
Whisnant RE,
Jungreis C,
Snyderman C,
Levy EI,
Kassam A</span><br />
<span class="medgenPMjournal">Ear Nose Throat J</span>
2002 Aug;81(8):536-8, 540, 542 passim.
<span class="bold">PMID: </span><a href="/pubmed/12199171" target="_blank">12199171</a></div>
<div class="nl"><a target="_blank" href="/pubmed/7993226">Preoperative embolization for paraganglioma.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Higo R,
Asai M,
Sugasawa M,
Takeuchi N,
Nemoto S</span><br />
<span class="medgenPMjournal">Auris Nasus Larynx</span>
1994;21(2):122-5.
doi: 10.1016/s0385-8146(12)80031-9.
<span class="bold">PMID: </span><a href="/pubmed/7993226" target="_blank">7993226</a></div>
<div class="nl"><a target="_blank" href="/pubmed/7387023">Carotid body paraganglioma regression with relief of hypoxemia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Gruber H,
Metson R</span><br />
<span class="medgenPMjournal">Ann Intern Med</span>
1980 Jun;92(6):800-2.
doi: 10.7326/0003-4819-92-6-800.
<span class="bold">PMID: </span><a href="/pubmed/7387023" target="_blank">7387023</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Carotid%20body%20paraganglioma%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 (7)</a></div><h3 class="subhead">Prognosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/38664798">Clinical outcomes and challenges of surgical extirpation for carotid body paraganglioma in South Korea: a single-center retrospective study.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Shin J,
Yun JS,
Kim YW</span><br />
<span class="medgenPMjournal">World J Surg Oncol</span>
2024 Apr 25;22(1):112.
doi: 10.1186/s12957-024-03390-w.
<span class="bold">PMID: </span><a href="/pubmed/38664798" target="_blank">38664798</a><a href="/pmc/articles/PMC11044452" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/36829189">Carotid body paraganglioma metastatic to spine causing cord compression: a case report.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Tabb JN,
Maas JA,
Earla BP,
Fallon KB,
McDonald AM,
Dobelbower MC</span><br />
<span class="medgenPMjournal">Diagn Pathol</span>
2023 Feb 24;18(1):31.
doi: 10.1186/s13000-023-01314-y.
<span class="bold">PMID: </span><a href="/pubmed/36829189" target="_blank">36829189</a><a href="/pmc/articles/PMC9951469" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/28028970">Diagnostic and Therapeutic Difficulties in Carotid Body Paragangliomas, Based on Clinical Experience and a Review of the Literature.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Dorobisz K,
Dorobisz T,
Temporale H,
Zatoński T,
Kubacka M,
Chabowski M,
Dorobisz A,
Kręcicki T,
Janczak D</span><br />
<span class="medgenPMjournal">Adv Clin Exp Med</span>
2016 Nov-Dec;25(6):1173-1177.
doi: 10.17219/acem/61612.
<span class="bold">PMID: </span><a href="/pubmed/28028970" target="_blank">28028970</a></div>
<div class="nl"><a target="_blank" href="/pubmed/27297087">Neurovascular complications following carotid body paraganglioma resection.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Lamblin E,
Atallah I,
Reyt E,
Schmerber S,
Magne JL,
Righini CA</span><br />
<span class="medgenPMjournal">Eur Ann Otorhinolaryngol Head Neck Dis</span>
2016 Nov;133(5):319-324.
Epub 2016 Jun 11
doi: 10.1016/j.anorl.2016.05.006.
<span class="bold">PMID: </span><a href="/pubmed/27297087" target="_blank">27297087</a></div>
<div class="nl"><a target="_blank" href="/pubmed/24090826">Clinical suspicion of bilateral carotid body paraganglioma and an unexpected histologic diagnosis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Bozzani A,
Arici V,
Ragni F,
Sagrada PF</span><br />
<span class="medgenPMjournal">Ann Vasc Surg</span>
2014 Jan;28(1):262.e9-11.
Epub 2013 Oct 3
doi: 10.1016/j.avsg.2013.05.005.
<span class="bold">PMID: </span><a href="/pubmed/24090826" target="_blank">24090826</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Carotid%20body%20paraganglioma%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 (15)</a></div><h3 class="subhead">Clinical prediction guides</h3>
<div class="nl"><a target="_blank" href="/pubmed/38664798">Clinical outcomes and challenges of surgical extirpation for carotid body paraganglioma in South Korea: a single-center retrospective study.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Shin J,
Yun JS,
Kim YW</span><br />
<span class="medgenPMjournal">World J Surg Oncol</span>
2024 Apr 25;22(1):112.
doi: 10.1186/s12957-024-03390-w.
<span class="bold">PMID: </span><a href="/pubmed/38664798" target="_blank">38664798</a><a href="/pmc/articles/PMC11044452" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/38651551">Microsurgery in carotid body paraganglioma.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Mazzoni A,
Franz L,
Zanoletti E</span><br />
<span class="medgenPMjournal">Acta Otorhinolaryngol Ital</span>
2024 Apr;44(2):76-82.
doi: 10.14639/0392-100X-N2761.
<span class="bold">PMID: </span><a href="/pubmed/38651551" target="_blank">38651551</a><a href="/pmc/articles/PMC11042556" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/27297087">Neurovascular complications following carotid body paraganglioma resection.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Lamblin E,
Atallah I,
Reyt E,
Schmerber S,
Magne JL,
Righini CA</span><br />
<span class="medgenPMjournal">Eur Ann Otorhinolaryngol Head Neck Dis</span>
2016 Nov;133(5):319-324.
Epub 2016 Jun 11
doi: 10.1016/j.anorl.2016.05.006.
<span class="bold">PMID: </span><a href="/pubmed/27297087" target="_blank">27297087</a></div>
<div class="nl"><a target="_blank" href="/pubmed/26861230">Head and Neck Paragangliomas: An Update on Evaluation and Management.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Moore MG,
Netterville JL,
Mendenhall WM,
Isaacson B,
Nussenbaum B</span><br />
<span class="medgenPMjournal">Otolaryngol Head Neck Surg</span>
2016 Apr;154(4):597-605.
Epub 2016 Feb 9
doi: 10.1177/0194599815627667.
<span class="bold">PMID: </span><a href="/pubmed/26861230" target="_blank">26861230</a></div>
<div class="nl"><a target="_blank" href="/pubmed/24090826">Clinical suspicion of bilateral carotid body paraganglioma and an unexpected histologic diagnosis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Bozzani A,
Arici V,
Ragni F,
Sagrada PF</span><br />
<span class="medgenPMjournal">Ann Vasc Surg</span>
2014 Jan;28(1):262.e9-11.
Epub 2013 Oct 3
doi: 10.1016/j.avsg.2013.05.005.
<span class="bold">PMID: </span><a href="/pubmed/24090826" target="_blank">24090826</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Carotid%20body%20paraganglioma%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 (21)</a></div></div>
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<div class="nl"><a target="_blank" href="/pubmed/26378186">The Effects of Preoperative Embolization on Carotid Body Paraganglioma Surgery: A Systematic Review and Meta-analysis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Jackson RS,
Myhill JA,
Padhya TA,
McCaffrey JC,
McCaffrey TV,
Mhaskar RS</span><br />
<span class="medgenPMjournal">Otolaryngol Head Neck Surg</span>
2015 Dec;153(6):943-50.
Epub 2015 Sep 16
doi: 10.1177/0194599815605323.
<span class="bold">PMID: </span><a href="/pubmed/26378186" target="_blank">26378186</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Carotid%20body%20paraganglioma%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 (1)</a></div></div>
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