Novel germline c-MET mutation in a family with hereditary papillary renal carcinoma

Fam Cancer. 2012 Sep;11(3):535-7. doi: 10.1007/s10689-012-9542-6.

Abstract

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.

Publication types

  • Case Reports

MeSH terms

  • Adenoma / genetics
  • Adenoma / pathology
  • Adult
  • Carcinoma, Renal Cell / genetics*
  • Carcinoma, Renal Cell / pathology*
  • Germ-Line Mutation*
  • Humans
  • Kidney Neoplasms / genetics*
  • Kidney Neoplasms / pathology*
  • Male
  • Neoplastic Syndromes, Hereditary / genetics
  • Proto-Oncogene Mas
  • Proto-Oncogene Proteins c-met / genetics*
  • Young Adult
  • von Hippel-Lindau Disease / diagnosis
  • von Hippel-Lindau Disease / genetics

Substances

  • MAS1 protein, human
  • Proto-Oncogene Mas
  • Proto-Oncogene Proteins c-met

Supplementary concepts

  • Papillary renal cell carcinoma, sporadic