IllnessParaganglioma 3 / phaeochromocytoma

NGS +

Sanger

Paragangliomas are rare, catecholamine-secreting neuroendocrine tumors commonly located in the pre-aortic and paravertebral sympathetic plexus or skull base. Functionally, paragangliomas are highly vascularized and either parasympathetic or sympathetic. Parasympathetic tumors are usually inactive, while sympathetic lesions are highly active and symptomatic. Paragangliomas, as usually unilateral, singular tumors, may be multiple in familial forms. The mostly benign tumors rarely degenerate, 30-40% occur familially and some may be associated with genetic syndromes (incl. pheochromocytoma) as in SDHC mutations. Pathogenic SDHC variants are detectable in 2-8% of paragangliomas. Inheritance is autosomal dominant with variable expressivity; age-dependent penetrance for familial SDHC cases is 25%. The DNA diagnostic yield is a maximum of 50% for all "paraganglioma genes" combined. Therefore, an inconspicuous genetic finding does not imply exclusion of the suspected clinical diagnosis.

Reference: https://www.ncbi.nlm.nih.gov/books/NBK1548/

• Alias: Carotid body tumors
• Alias: Chemodectomas
• Alias: Familial pheochromocytoma-paraganglioma
• Alias: Glomus jugulare tumors
• Alias: Glomus tumors, familial
• Alias: Paragangliomas, carotid body
• Alias: Paragangliomas, familial non-chromaffin
• Gastrointestinal stromal tumor (SDHC)
• Paraganglioma + gastric stromal sarcoma (SDHC)
• Paragangliomas 3 (SDHC)