Article ; Online: A Case of Sporadic Multiple Colonic Polyps in a Young Woman.
Current oncology (Toronto, Ont.)
2023 Volume 30, Issue 2, Page(s) 1293–1299
Abstract: 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, ...
Abstract | 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. |
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MeSH term(s) | Female ; Humans ; Adult ; Colonic Polyps/genetics ; Adenomatous Polyposis Coli/genetics ; Adenomatous Polyposis Coli/pathology ; Colorectal Neoplasms/pathology ; Adenoma/genetics ; Colonic Neoplasms/genetics ; Codon |
Chemical Substances | Codon |
Language | English |
Publishing date | 2023-01-17 |
Publishing country | Switzerland |
Document type | Case Reports ; Research Support, Non-U.S. Gov't |
ZDB-ID | 1236972-x |
ISSN | 1718-7729 ; 1198-0052 |
ISSN (online) | 1718-7729 |
ISSN | 1198-0052 |
DOI | 10.3390/curroncol30020100 |
Database | MEDical Literature Analysis and Retrieval System OnLINE |
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