MEN2-associated phaeochromocytoma — SCE Endocrinology MCQ

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ModerateAdrenalMEN2-associated phaeochromocytomaSCE Endocrinology

A 35-year-old woman has episodic hypertension and a 4 cm adrenal mass. Her father had medullary thyroid cancer. Plasma metanephrines are raised. What is the most appropriate genetic association to consider?

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Correct answer: A — RET mutation causing MEN2

Phaeochromocytoma with family history of medullary thyroid carcinoma suggests MEN2 from RET mutation. MEN1 is associated with parathyroid, pituitary and pancreatic neuroendocrine tumours. Genetic diagnosis affects screening and family counselling.

Reference: Endocrine Society Phaeochromocytoma Guideline; MEN2 Guidance