GTR Home > Tests > Hereditary Paraganglioma-Pheochromocytoma Syndrome Sequencing Panel

Indication

This is a clinical test intended for Help: Diagnosis, Mutation Confirmation, Pre-symptomatic, Risk Assessment, Screening

Clinical summary

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Imported from GeneReviews

Hereditary paraganglioma-pheochromocytoma (PGL/PCC) syndromes are characterized by paragangliomas (tumors that arise from neuroendocrine tissues symmetrically distributed along the paravertebral axis from the base of the skull to the pelvis) and by pheochromocytomas (paragangliomas that are confined to the adrenal medulla). Sympathetic paragangliomas hypersecrete catecholamines; parasympathetic paragangliomas are most often nonsecretory. Extra-adrenal parasympathetic paragangliomas are located predominantly in the skull base, neck, and upper medistinum; approximately 95% of such tumors are nonsecretory. In contrast, sympathetic extra-adrenal paragangliomas are generally confined to the lower mediastinum, abdomen, and pelvis, and are typically secretory. Pheochromocytomas, which arise from the adrenal medulla, typically hypersecrete catecholamines. Symptoms of PGL/PCC result either from 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 malignant transformation is greater for extra-adrenal sympathetic paragangliomas than for pheochromocytomas or skull base and neck paragangliomas.

Clinical features

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Imported from Human Phenotype Ontology (HPO)

  • Cataract, congenital
  • Heart failure
  • Hemangioma
  • Hypercalcemia
  • Neoplasm
  • Pheochromocytoma
  • Proteinuria
  • Renal artery stenosis
  • Hyperhidrosis
  • Tachycardia
  • Hypertensive retinopathy
  • Cafe-au-lait spot
  • Cerebral hemorrhage
  • Episodic hypertension
  • Positive regitine blocking test
  • Elevated urinary norepinephrine
Show all

Conditions tested

Condition/PhenotypeAlso known asIdentifier
PheochromocytomaMAX-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome
PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO
Pheochromocytoma, somatic
MIM:171300, C0031511
Carcinoid tumor of intestineCarcinoid tumors, intestinalMIM:114900, C0349535
Cowden syndrome 2Cowden-like syndromeMIM:612359, C3552552
Fumarase deficiencyFumarate Hydratase DeficiencyMIM:606812, C0342770
Multiple endocrine neoplasia, type 1MEA I
MEN I
MIM:131100, C0025267
Neurofibromatosis, type 1NEUROFIBROMATOSIS, PERIPHERAL TYPE
NEUROFIBROMATOSIS, TYPE I
NEUROFIBROMATOSIS, TYPE I, SOMATIC
Neurofibromatosis-Noonan syndrome
MIM:162200, C0027831
Paraganglioma and gastric stromal sarcomaMIM:606864, C1847319
Paragangliomas 1CAROTID BODY TUMORS
PARAGANGLIOMA, CAROTID BODY
PARAGANGLIOMAS, FAMILIAL NONCHROMAFFIN, 1
MIM:168000, C1868633
Paragangliomas 2Hereditary Paraganglioma-Pheochromocytoma SyndromesMIM:601650, C1866552
Paragangliomas 3MIM:605373, C1854336
Paragangliomas 4CAROTID BODY TUMORS AND MULTIPLE EXTRAADRENAL PHEOCHROMOCYTOMASMIM:115310, C1861848
Paragangliomas 5MIM:614165, C3279992

Target population

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Individuals with a clinical or family history of Hereditary PGL/PCC syndrome should be tested early. Early diagnosis may improve patient prognosis through regular screening and treatment for early-onset malignancies. Early detection through surveillance and removal of tumors may prevent or minimize complications related to mass effects, catecholamine hypersecretion, and malignant transformation.

Citations

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Clinical validity

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Not provided

Clinical utility

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Not provided

Practice guidelines

  • ES, 2014
    Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline.
  • ASCO, 2014
    American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology providers.
  • KCRNC, 2013
    Canadian guideline on genetic screening for hereditary renal cell cancers.
  • NANETS, 2010
    The NANETS Consensus Guideline for the Diagnosis and Management of Neuroendocrine Tumors: Pheochromocytoma, Paraganglioma & Medullary Thyroid Cancer

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