{Reference Type}: Case Reports
{Title}: A Case of Sporadic Multiple Colonic Polyps in a Young Woman.
{Author}: Sin SH;Yoon JH;Kim SW;Park WS;Chae HS;
{Journal}: Curr Oncol
{Volume}: 30
{Issue}: 2
{Year}: 01 2023 17
{Factor}: 3.109
{DOI}: 10.3390/curroncol30020100
{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.