- Clinical Finding
- Etiology
- Pathology
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- Clinical Case Studies
- Study Questions
A 30-year-old man with a history of a cerebellar tumor that was resected when he was 20 years of age presents to his physician because of blood in his urine. He is concerned because his father's brother died early in life from complications of a metastatic tumor. He is evaluated with an ultrasound and found to have a mass in the left kidney. The kidney is removed, and the mass is diagnosed as a renal cell carcinoma. This patient most likely has a mutation at which of the following sites?
The correct answer is C. You answered A.
The location of the retinoblastoma gene is 13q14, and in familial cases, it is associated with retinoblastoma and osteosarcoma. 5q21 is the location of the APC gene, and in familial cases, it is associated with colonic adenocarcinoma. 17p13 is the location of the p53 gene, and in familial cases, it is associated with various sarcomas and with breast carcinoma. 3p25 is the location of the von Hippel-Lindau gene and in familial cases, it is associated with renal cell carcinomas and cerebellar hemangioblastomas.
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A 30-year-old man with a history of a cerebellar tumor that was resected when he was 20 years of age presents to his physician because of blood in his urine. He is concerned because his father's brother died early in life from complications of a metastatic tumor. He is evaluated with an ultrasound and found to have a mass in the left kidney. The kidney is removed, and the mass is diagnosed as a renal cell carcinoma. This patient most likely has a mutation at which of the following sites?
The correct answer is C. You answered A.
The location of the retinoblastoma gene is 13q14, and in familial cases, it is associated with retinoblastoma and osteosarcoma. 5q21 is the location of the APC gene, and in familial cases, it is associated with colonic adenocarcinoma. 17p13 is the location of the p53 gene, and in familial cases, it is associated with various sarcomas and with breast carcinoma.
3p25 is the location of the von Hippel-Lindau gene and in familial cases, it is associated with renal cell carcinomas and cerebellar hemangioblastomas.