Phenotypic variation in colorectal adenoma/cancer expression in two families. Hereditary flat adenoma syndrome

Cancer. 1990 Sep 1;66(5):909-15. doi: 10.1002/1097-0142(19900901)66:5<909::aid-cncr2820660516>3.0.co;2-h.

Abstract

Clinical, pathologic, and genetic studies on two colorectal cancer-prone families have disclosed right-sided colonic flat adenomas and colorectal cancer. Adenomatous polyp counts exceeded those found in hereditary nonpolyposis colorectal cancer (HNPCC) but were fewer than in familial adenomatous polyposis (FAP). Colon cancer occurred at a later age than in HNPCC or FAP and showed right-sided predominance. The older age of patients with colonic cancer, the right-sided predominance of colon cancer, and the paucity of rectal adenomas make FAP unlikely. Vertical transmission of polyps and colon cancer fit the pattern of autosomal dominant inheritance. A characteristic feature of this phenotype is the predominance of flat adenomas. Molecular genetic studies, with careful description of phenotype, should help clarify classification.

Publication types

  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adenocarcinoma / genetics*
  • Adenocarcinoma / pathology
  • Adenoma / genetics*
  • Adenoma / pathology
  • Adult
  • Aged
  • Aged, 80 and over
  • Cecal Neoplasms / genetics
  • Cecal Neoplasms / pathology
  • Colonic Polyps / genetics*
  • Colonic Polyps / pathology
  • Colorectal Neoplasms, Hereditary Nonpolyposis / genetics*
  • Colorectal Neoplasms, Hereditary Nonpolyposis / pathology
  • Female
  • Humans
  • Male
  • Middle Aged
  • Neoplasms, Multiple Primary / genetics*
  • Neoplasms, Multiple Primary / pathology
  • Pedigree
  • Phenotype