A 30-year-old man presents with headaches and polycythemia. MRI shows a well-circumscribed cystic cerebellar mass with an enhancing mural nodule. He has a family history of renal cell carcinoma. The underlying genetic abnormality involves mutation of:
- A NF1 gene on chromosome 17
- B APC gene on chromosome 5q
- C VHL gene on chromosome 3p ✓
- D RET proto-oncogene on chromosome 10
Correct answer: C. VHL gene on chromosome 3p
Explanation
Hemangioblastoma of the cerebellum is associated with von Hippel-Lindau disease, caused by mutation of the VHL tumor suppressor gene on chromosome 3p. It presents as a cystic lesion with an enhancing mural nodule and secretes erythropoietin causing secondary polycythemia. VHL syndrome also includes retinal angiomas, clear cell renal carcinoma, pheochromocytoma, and pancreatic cysts. NF1 causes neurofibromatosis type 1 with optic gliomas.
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.