A 30-year-old man presents with headaches, cerebellar signs, and polycythemia. Post-contrast MRI shows a cystic posterior fossa lesion with an intensely enhancing mural nodule. Which genetic syndrome is most strongly associated?

• A Von Hippel-Lindau disease ✓
• B Li-Fraumeni syndrome
• C Cowden syndrome
• D Turcot syndrome

Explanation

Hemangioblastoma is a benign vascular tumor of the cerebellum composed of capillary channels with lipidized stromal cells. It secretes erythropoietin causing secondary polycythemia. It is associated with VHL disease due to VHL gene mutation on chromosome 3p, along with renal cell carcinoma and retinal hemangioblastomas. Turcot syndrome predisposes to glioblastoma and medulloblastoma, not hemangioblastoma, killing option D.

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.