Spectrum of molecular alterations in colorectal, upper urinary tract, endocervical, and renal carcinomas arising in a patient with hereditary non-polyposis colorectal cancer

Virchows Arch. 2006 Aug;449(2):238-43. doi: 10.1007/s00428-006-0182-9. Epub 2006 Apr 26.


Hereditary nonpolyposis colon cancer (HNPCC) syndrome is the most frequent hereditary cancer syndrome predisposing to cancers of various locations, especially colon, endometrium, stomach, and upper urinary tract. Carcinomas of the kidney parenchyma are not considered as an HNPCC-related tumor. HNPCC tumors are characterized by microsatellite instability (MSI) due to a defect in mismatch repair (MMR) and carry somatic frameshift mutations in mononucleotide repeats within the coding regions of key genes. We report the first case of a papillary carcinoma of the kidney in an HNPCC patient who developed carcinomas of the upper urinary tract, endocervix, and colon. Whereas the HNPCC-related tumors demonstrated MSI phenotype, loss of MSH2 protein expression, and frameshift mutations in several of the 13 target genes analyzed, the kidney cancer displayed MSS phenotype, normal MMR protein expression, and no frameshift mutation in target genes. Our observations do not support the possibility that papillary carcinomas are part of HNPCC syndrome.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Colorectal Neoplasms / genetics*
  • Colorectal Neoplasms / pathology
  • Colorectal Neoplasms, Hereditary Nonpolyposis / genetics*
  • Colorectal Neoplasms, Hereditary Nonpolyposis / pathology
  • DNA-Binding Proteins / genetics
  • Female
  • Humans
  • Immunohistochemistry
  • Kidney Neoplasms / genetics*
  • Kidney Neoplasms / pathology
  • MRE11 Homologue Protein
  • Microsatellite Repeats
  • Middle Aged
  • Neoplasms, Second Primary / genetics*
  • Neoplasms, Second Primary / pathology
  • Urologic Neoplasms / genetics*
  • Urologic Neoplasms / pathology
  • Uterine Cervical Neoplasms / genetics*
  • Uterine Cervical Neoplasms / pathology
  • bcl-2-Associated X Protein / genetics


  • BAX protein, human
  • DNA-Binding Proteins
  • MRE11 protein, human
  • bcl-2-Associated X Protein
  • MRE11 Homologue Protein