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    SubjectsPathologyMEN2A RET 10q11 Autosomal Dominant Medullary Thyroid Carcinoma Pheochromocytoma Parathyroid
    Para-clinicalPathology

    MEN2A RET 10q11 Autosomal Dominant Medullary Thyroid Carcinoma Pheochromocytoma Parathyroid

    1 MCQs in Pathology for NEET PG

    1 Medium
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    A 28-year-old woman presents with paroxysmal headaches, diaphoresis, and palpitations with severe hypertension (220/120 mmHg). Plasma free metanephrines are markedly elevated, and abdominal MRI reveals bilateral 3 cm adrenal masses. Serum calcitonin is 850 pg/mL; thyroid FNA shows medullary thyroid carcinoma with amyloid stroma. Serum calcium and PTH are mildly elevated. Family history is significant for medullary thyroid carcinoma in her father and bilateral pheochromocytoma in her paternal grandfather. Genetic testing identifies a pathogenic gain-of-function mutation at codon 634 (Cys634Arg) in the RET proto-oncogene located at the locus marked **B** in the diagram. Which of the following best describes the molecular consequence of this RET mutation in MEN2A?

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