IllnessParaganglioma 4 / 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 (exception SDHB tumors up to 97% degeneration), 30-40% occur familially, some may be associated with genetic syndromes (incl. pheochromocytoma) as in SDHB mutations. Pathogenic SDHB variants are detectable in 10-25% of paragangliomas. Inheritance is autosomal dominant with variable expressivity; age-dependent penetrance for familial SDHB 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 imply exclusion of the suspected clinical diagnosis.

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

• Alias: Carotid body tumors
• Alias: Chemodectomas
• Alias: Glomus jugulare tumors
• Alias: Glomus tumors, familial
• Alias: Paragangliomas, carotid body
• Alias: Paragangliomas, familial non-chromaffin
• Allelic: Gastrointestinal stromal tumor (SDHB)
• Allelic: Paraganglioma + gastric stromal sarcoma (SDHB)
• Paragangliomas 4 (SDHB)
• Pheochromocytoma (SDHB)