MEN2A — SCE Endocrinology MCQ
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Correct answer: B — MEN2A due to a germline RET pathogenic variant
The best answer is “MEN2A due to a germline RET pathogenic variant”. The triad of medullary thyroid carcinoma, phaeochromocytoma and parathyroid disease is classic MEN2A; identifying the RET variant directs family testing and genotype-informed management. “Multiple endocrine neoplasia type 1 due to MEN1” is less appropriate because MEN1 classically combines parathyroid, pituitary and gastro-entero-pancreatic tumours rather than medullary thyroid carcinoma “Von Hippel–Lindau syndrome without medullary thyroid carcinoma predisposition” is less appropriate because VHL predisposes to phaeochromocytoma but not the defining medullary-thyroid and parathyroid triad “McCune–Albright syndrome due to mosaic GNAS activation” is less appropriate because McCune–Albright causes fibrous dysplasia, café-au-lait skin change and endocrine hyperfunction rather than this tumour syndrome “Autoimmune polyglandular syndrome type 2” is less appropriate because autoimmune polyglandular disease causes gland failure rather than this neoplastic combination
Reference: GeneReviews: Multiple Endocrine Neoplasia Type 2. https://www.ncbi.nlm.nih.gov/books/NBK1257/