A Case of Sporadic Multiple Colonic Polyps in a Young Woman

Curr Oncol. 2023 Jan 17;30(2):1293-1299. doi: 10.3390/curroncol30020100.


Sporadic colorectal cancer arises from an adenoma. As mutations in the adenomatous polyposis coli (APC) tumor suppressor gene have been frequently detected in colorectal adenomas, the APC gene is considered a gatekeeper in colorectal carcinogenesis. Here, we report a case of sporadic multiple colonic adenomas that were accompanied by an APC-truncating mutation. A 25-year-old Korean woman presented with dozens of incidentally found colonic polyps. There was no family history of colorectal polyposis or colon cancer in her first or second-degree relatives. All the polyps were removed endoscopically at once, and their pathological examination revealed tubular adenoma. Mutational analysis showed a 2-bp deletion mutation at codon 443, which generates a premature stop codon at codon 461 of the APC gene, and Western blot analysis demonstrated both wild-type and truncated APC proteins in adenoma tissue. This study suggests that a single truncating mutation of the APC gene may initiate adenoma formation.

Keywords: APC gene; adenoma; colon; mutation.

Publication types

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

MeSH terms

  • Adenoma* / genetics
  • Adenomatous Polyposis Coli* / genetics
  • Adenomatous Polyposis Coli* / pathology
  • Adult
  • Codon
  • Colonic Neoplasms* / genetics
  • Colonic Polyps* / genetics
  • Colorectal Neoplasms* / pathology
  • Female
  • Humans


  • Codon

Grants and funding

This study was funded by the National Research Foundation of Korea (2021R1A2C1093096).