MEN2B — SCE Endocrinology MCQ
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Correct answer: E — MEN2B from an activating germline RET variant
The best answer is “MEN2B from an activating germline RET variant”. Early medullary thyroid carcinoma with mucosal neuromas, marfanoid build and gastrointestinal ganglioneuromatosis is the defining MEN2B phenotype; phaeochromocytoma may develop later despite current normal metanephrines. “MEN1 caused by loss of menin” is less appropriate because MEN1 causes parathyroid, pituitary and gastro-entero-pancreatic tumours without mucosal neuromas “Familial isolated pituitary adenoma caused by AIP” is less appropriate because AIP disease predisposes mainly to pituitary adenomas “McCune–Albright syndrome caused by mosaic GNAS activation” is less appropriate because GNAS mosaicism causes fibrous dysplasia and autonomous endocrine hyperfunction “Autoimmune polyglandular syndrome type 1 caused by AIRE variants” is less appropriate because AIRE disease causes autoimmune gland failure, candidiasis and ectodermal disease rather than this neoplastic phenotype
Reference: GeneReviews: Multiple Endocrine Neoplasia Type 2. https://www.ncbi.nlm.nih.gov/books/NBK1257/