title: Prostate cancer is part of the hereditary non-polyposis colorectal cancer (HNPCC) tumor spectrum.
abstract: The recognized urologic tumor spectrum in hereditary non-polyposis colon cancer includes ureteral and renal pelvis malignancies. Here, we report a family in which the proband, who had three metachronous adenocarcinomas of the colon and rectum (at ages 54, 57, and 60), presented with an adenocarcinoma of the prostate at age 61. Immunohistochemical (IHC) staining of colonic, rectal, and prostatic tumor tissues demonstrated lack of expression of both MSH2 and MSH6. Accordingly, microsatellite instability (MSI) was found in the rectal, colonic, and prostatic tumors. The kindred complies with the Amsterdam criteria for HNPCC, as five members over three generations had colorectal cancer. Molecular investigations were initiated when the proband's son presented with an adenocarcinoma of the colon at age 35. Southern blotting analysis of genomic DNA led to identification of a novel genomic deletion encompassing exon 5 of the MSH2 gene. Although prostate cancer has occasionally been described in HNPCC families, to the best of our knowledge, this is the first report where the MSI and IHC analysis of the prostatic adenomcarcinoma clearly link its aetiology to the germline mismatch repair mutation. Hence, prostate cancer should be included in the HNPCC tumor spectrum.
authors.affiliation: Clinic of Digestive Surgery, Geneva University Hospital, Geneva, Switzerland. csoravia@hin.ch
authors.forename: Claudio
authors.initials: C
authors.lastname: Soravia
authors.forename: Heleen
authors.initials: H
authors.lastname: van der Klift
authors.forename: Marie-Anne
authors.initials: MA
authors.lastname: Bründler
authors.forename: Jean-Louis
authors.initials: JL
authors.lastname: Blouin
authors.forename: Juul
authors.initials: J
authors.lastname: Wijnen
authors.forename: Pierre
authors.initials: P
authors.lastname: Hutter
authors.forename: Riccardo
authors.initials: R
authors.lastname: Fodde
authors.forename: Célia
authors.initials: C
authors.lastname: Delozier-Blanchet
mesh_terms: D020137:Base Pair Mismatch; D003123:Colorectal Neoplasms, Hereditary Nonpolyposis / Q000175:diagnosis*; D004252:DNA Mutational Analysis; D018095:Germ-Line Mutation; D006801:Humans; D007150:Immunohistochemistry; D008297:Male; D018895:Microsatellite Repeats; D008875:Middle Aged; D010375:Pedigree; D011471:Prostatic Neoplasms / Q000150:complications* / Q000175:diagnosis; D011506:Proteins / Q000235:genetics
chemical_list: D011506:Proteins