The RET proto-oncogene encodes a receptor tyrosine kinase. Germline gain-of-function mutations in RET are most characteristically associated with which hereditary syndrome?

• A Multiple endocrine neoplasia type 1 (MEN 1)
• B Von Hippel-Lindau syndrome
• C Multiple endocrine neoplasia type 2 (MEN 2A/2B) ✓
• D Neurofibromatosis type 1

Explanation

RET encodes a receptor tyrosine kinase; activating germline mutations cause MEN 2A (medullary thyroid carcinoma, pheochromocytoma, parathyroid hyperplasia) and MEN 2B (medullary thyroid carcinoma, pheochromocytoma, mucosal neuromas). MEN 1 is caused by mutations in the MEN1 gene (menin), VHL syndrome by VHL gene mutations, and NF1 by NF1 gene mutations. RET somatic rearrangements (RET/PTC) also occur in sporadic papillary thyroid carcinoma.

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

High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP

Written and medically reviewed by the StethoPrep medical team.