Aggressive phenotype of MYH-associated polyposis with jejunal cancer and intra-abdominal desmoid tumor: report of a case

Dis Colon Rectum. 2009 Apr;52(4):742-5. doi: 10.1007/DCR.0b013e318199db93.

Abstract

MYH-associated polyposis is an inherited autosomal recessive disease, linked to biallelic germline MYH mutations, which predisposes to the development of multiple colorectal adenomas and cancer. The colonic and extracolonic phenotype of this syndrome is very heterogeneous. We report the case of a young male patient with an aggressive MYH-associated polyposis phenotype. He presented at aged 30 years with more than 100 colonic polyps and 4 colonic adenocarcinomas. At aged 35 years, Spigelman Stage IV duodenal adenomatosis was detected. When he was 39 years old, he developed three synchronous jejunal adenocarcinomas and a mesenteric desmoid tumor. Based on this report, we believe that screening of the entire small bowel should be recommended in MYH-associated polyposis patients, especially in those with duodenal adenomas. Similar to patients with familial adenomatous polyposis, desmoid tumors also may be part of the clinical spectrum of MYH-associated polyposis and may prove to be a significant clinical problem in patients submitted to prophylactic colectomy.

Publication types

  • Case Reports

MeSH terms

  • Adenocarcinoma / genetics
  • Adenoma / genetics
  • Adenomatous Polyposis Coli / genetics*
  • Adult
  • Colorectal Neoplasms / genetics*
  • DNA Glycosylases / genetics
  • Duodenal Neoplasms / genetics
  • Fibromatosis, Aggressive / genetics*
  • Genetic Predisposition to Disease
  • Germ-Line Mutation
  • Humans
  • Intestinal Neoplasms / genetics
  • Intestinal Obstruction / etiology
  • Jejunal Neoplasms / complications
  • Jejunal Neoplasms / genetics*
  • Liver Neoplasms / secondary
  • Male
  • Mesentery
  • Mutation
  • Neoplasms, Multiple Primary / genetics*
  • Peritoneal Neoplasms / genetics*
  • Phenotype
  • Syndrome

Substances

  • DNA Glycosylases