A case of an unreported point mutation in promoter 1B of the adenomatous polyposis coli gene, which is responsible for gastric adenocarcinoma and proximal polyposis of the stomach.

Autor: Ishida A; Department of Palliative Medicine, National Cancer Hospital East, 6-5-1 Kashiwanoha, Kashiwa-Shi, Chiba, 277-8577, Japan. m09201009@gunma-u.ac.jp.; Department of Gastroenterology, Kanagawa Cancer Center, Yokohama, Kanagawa, Japan. m09201009@gunma-u.ac.jp., Inokuchi Y; Department of Gastroenterology, Kanagawa Cancer Center, Yokohama, Kanagawa, Japan., Hirata M; Department of Genetic Medicine and Services, National Cancer Center Hospital, Tokyo, Japan., Narimatsu H; Department of Genetic Medicine, Cancer Prevention and Cancer Control Division, Kanagawa Cancer Center Research Institute, Yokohama, Kanagawa, Japan.; Graduate School of Health Innovation, Kanagawa University of Human Services, Yokosuka, Kanagawa, Japan., Yoshioka E; Department of Pathology, Kanagawa Cancer Center, Yokohama, Kanagawa, Japan., Washimi K; Department of Pathology, Kanagawa Cancer Center, Yokohama, Kanagawa, Japan., Machida N; Department of Gastroenterology, Kanagawa Cancer Center, Yokohama, Kanagawa, Japan., Maeda S; Department of Gastroenterology, Yokohama City Universal Hospital, Yokohama, Kanagawa, Japan.
Jazyk: angličtina
Zdroj: Clinical journal of gastroenterology [Clin J Gastroenterol] 2024 Aug; Vol. 17 (4), pp. 602-606. Date of Electronic Publication: 2024 Apr 18.
DOI: 10.1007/s12328-024-01964-5
Abstrakt: A 35-year-old woman of Asian descent with epigastralgia was referred to our hospital. Esophagogastroduodenoscopy revealed gastric cancer in the upper body and carpeting fundic gland polyposis in the fornix and body. Computed tomography revealed no metastases. Total colonoscopy and capsule endoscopy revealed no polyposis, except in the stomach. The patient was diagnosed with advanced gastric cancer and underwent open total gastrectomy. We speculated that her gastric cancer was a hereditary tumor due to its early onset and accompanying fundic gland polyposis. Germline multi-gene panel testing identified a single-nucleotide variant, c.-191 T > G, in exon 1B of the adenomatous polyposis coli gene, which can cause gastric adenocarcinoma and proximal polyposis of the stomach. To our knowledge, this is the first manuscript to report the variant (c.-191 T > G) in promoter 1B of the adenomatous polyposis coli gene, which is related to a predisposition to gastric adenocarcinoma and proximal polyposis of the stomach.
(© 2024. Japanese Society of Gastroenterology.)
Databáze: MEDLINE
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