期刊
FAMILIAL CANCER
卷 11, 期 3, 页码 535-537出版社
SPRINGER
DOI: 10.1007/s10689-012-9542-6
关键词
c-MET; Hereditary papillary renal carcinoma; Oncogenetics; Genetic counselling
Hereditary papillary renal carcinoma (HPRC) is a highly penetrant hereditary renal cancer syndrome caused by germline missense mutations in the c-MET proto-oncogene. HPRC is clinically characterized by multiple bilateral papillary renal-cell carcinomas. Here we report a family with a novel missense mutation in c-MET. The original pathology report of four primary kidney cancers (1988-1997) revealed renal-cell carcinoma. A revised report described multiple adenomas and papillary renal-cell carcinomas with focal clear cells and a mixture of type 1 and type 2 pattern, emphasizing the importance of revised pathology examinations in possible hereditary renal-cell carcinomas especially when described before 1997.
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