A 30-year-old man is diagnosed with a 3 cm pheochromocytoma. His father had a clear cell renal cell carcinoma at age 42, and a brother had a cerebellar hemangioblastoma. Germline genetic testing is most likely to reveal a mutation in which gene?

• A RET proto-oncogene
• B NF1 gene
• C SDHB gene
• D VHL gene ✓

Explanation

Von Hippel-Lindau syndrome, caused by germline VHL mutations, is characterized by pheochromocytomas, clear cell renal cell carcinoma, CNS hemangioblastomas, and pancreatic cysts. The family history of RCC and cerebellar hemangioblastoma is classic for VHL. RET causes MEN2. NF1 causes neurofibromatosis type 1 with pheochromocytomas but not RCC. SDHB mutations are associated with paragangliomas but not the VHL-associated tumor spectrum.

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

High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP

Written and medically reviewed by the StethoPrep medical team.