A Case of Sporadic Multiple Colonic Polyps in a Young Woman

Autor: Seung Ho Sin, Jung Hwan Yoon, Sang Woo Kim, Won Sang Park, Hiun Suk Chae
Jazyk: angličtina
Rok vydání: 2023
Předmět:
Zdroj: Current Oncology, Vol 30, Iss 2, Pp 1293-1299 (2023)
Druh dokumentu: article
ISSN: 1718-7729
1198-0052
DOI: 10.3390/curroncol30020100
Popis: 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.
Databáze: Directory of Open Access Journals
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