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Disease characteristics

Excerpted from the GeneReview: Hereditary Paraganglioma-Pheochromocytoma Syndromes
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.

Associated genes

Clinical features

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  • Pulsatile tinnitus (tympanic paraganglioma)
  • Vocal cord paralysis (caused by tumor impingement)
  • Hoarse voice (caused by tumor impingement)
  • Vocal cord paralysis
  • Loss of voice
  • Paraganglioma-related cranial nerve palsy
  • Vagal paraganglioma
  • Glomus jugular tumor
  • Glomus tympanicum paraganglioma
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Go to complete MedGen record for Paragangliomas 2

Clinical resources

Practice guidelines

  • ACMG, 2013
    ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
  • ASCO, 2010
    American Society of Clinical Oncology policy statement update: genetic and genomic testing for cancer susceptibility.
  • ASCO, 2009
    American Society of Clinical Oncology Policy Statement: The Role of the Oncologist in Cancer Prevention and Risk Assessment

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