A patient with MEN 1 syndrome is most likely to harbor a mutation in which gene, and which combination of tumors defines this syndrome?

• A MEN1 gene (menin); parathyroid adenoma/hyperplasia, pituitary adenoma, pancreatic endocrine tumors ✓
• B RET gene; medullary thyroid carcinoma, pheochromocytoma, parathyroid hyperplasia
• C VHL gene; clear cell renal carcinoma, hemangioblastoma, pheochromocytoma
• D NF1 gene; neurofibromas, café-au-lait spots, Lisch nodules

Explanation

MEN 1 (Wermer syndrome) is caused by loss-of-function mutations in the MEN1 gene encoding the tumor suppressor menin. It is classically defined by the triad of parathyroid tumors (most common, causing hypercalcemia), pituitary adenomas (often prolactinomas), and pancreatic endocrine tumors (gastrinomas, insulinomas). RET mutations underlie MEN 2A and 2B. VHL mutations cause Von Hippel-Lindau disease.

Reference: Robbins & Cotran Pathologic Basis of Disease, 10th ed.

High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP

Written and medically reviewed by the StethoPrep medical team.