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ENT · Neck: hereditary paraganglioma
Sample itemFamilial carotid body and glomus tumours are most commonly associated with mutations in which gene family?
Original practice item, not a recalled exam question. Nothing here is recorded.
The answer and the reasoning
D. Succinate dehydrogenase (SDH) genes
Hereditary head and neck paragangliomas are most often due to SDHD and other SDH subunit mutations, which are mitochondrial complex II genes. Genetic testing and family screening are advised. RET is linked to medullary thyroid carcinoma and phaeochromocytoma in MEN2.
Option by option
A. NF1 gene
NF1 is associated with neurofibromas.
B. RET proto-oncogene
RET mutations cause MEN 2.
C. BRCA genes
BRCA genes are related to breast and ovarian cancers.
D. Succinate dehydrogenase (SDH) genes (correct)
Correct. SDH mutations underlie familial paragangliomas.
Source note: Original NextPrep sample item — pending expert review. This item is original practice material awaiting independent expert review, so confirm important facts in a standard textbook.
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