IllnessParaganglioma 1 / 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 SDHD mutations. Pathogenic SDHD variants are detectable in 8-9% of paragangliomas. Inheritance is autosomal dominant with variable expressivity; age-dependent penetrance for familial SDHD cases is up to 50%. The DNA diagnostic yield is a maximum of 50% for all "paraganglioma genes" combined. Therefore, an inconspicuous genetic finding does not mean exclusion of the clinical suspected diagnosis.

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

• Alias: Carotid body tumors; Chemodectomas
• Alias: Glomus jugulare tumors
• Alias: Glomus tumors, familial
• Alias: Paragangliomas, carotid body
• Alias: Paragangliomas, familial non-chromaffin
• Allelic: Mitochondrial complex II deficiency (SDHD)
• Allelic: Paraganglioma + gastric stromal sarcoma (SDHD)
• Allelic: Paragangliomas 1, with/-out deafness (SDHD)
• Pheochromocytoma (SDHD)