Novel germline c-MET mutation in a family with hereditary papillary renal carcinoma.
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.
Department of Clinical Genetics, Rigshospitalet, Blegdamsvej 9, 2100, Copenhagen, Denmark. karin.wadt@rh.regionh.dk
Karin A W
KA
Wadt
Anne-Marie
AM
Gerdes
Thomas V O
TV
Hansen
Birgitte G
BG
Toft
Lennart
L
Friis-Hansen
Mette K
MK
Andersen
D000236:Adenoma / Q000235:genetics / Q000473:pathology; D000328:Adult; D002292:Carcinoma, Renal Cell / Q000235:genetics* / Q000473:pathology*; D018095:Germ-Line Mutation; D006801:Humans; D007680:Kidney Neoplasms / Q000235:genetics* / Q000473:pathology*; D008297:Male; D009386:Neoplastic Syndromes, Hereditary / Q000235:genetics; D000090063:Proto-Oncogene Mas; D019859:Proto-Oncogene Proteins c-met / Q000235:genetics*; D055815:Young Adult; D006623:von Hippel-Lindau Disease / Q000175:diagnosis / Q000235:genetics
C000715470:MAS1 protein, human; D000090063:Proto-Oncogene Mas; D019859:Proto-Oncogene Proteins c-met