A 40 year old man presents with painless hematuria. On examination a ballotable mass is felt over the right flank. Right nephrectomy is done and the specimen showed cells with clear cytoplasm, areas of hemorrhage and necrosis. Cytogenic analysis of this mass is likely to reveal an abnormality of which of the following chromosome?
Correct Answer: Chromosome 3
Description: Patient is suffering from clear cell type renal cell carcinoma, which accounts for 90-95% of malignant neoplasms arising from the kidney. Approximately 35% of individuals with Von Hippel Lindau syndrome develop clear cell renal cell carcinoma. VHL syndrome is an autosomal dominant disorder. VHL gene is located on the sho arm of chromosome 3. Other associated neoplasms associated with VHL includes retinal hemangioma, hemangioblastoma of the spinal cord and cerebellum, pheochromocytoma, neuroendocrine tumors and cysts, and cysts in the epididymis of the testis in men and the broad ligament in women. Ref: Harrison's Internal Medicine, 18th Edition, Chapter 94
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