Upper gastrointestinal tumors are unrelated to the APC genotype in APC-associated polyposis

Takao, Akinari ¹Koizumi, Koichi ¹Takao, Misato ¹Inokuchi, Takuhiko ¹Iijima, Takeru ¹Kojika, Ekumi ¹Urushibara, Makiko ¹Horiguchi, Shin-Ichiro ¹Yamaguchi, Tatsuro¹

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作者信息

1. Tokyo Metropolitan Canc & Infect Dis Ctr,Komagome Hosp
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Abstract

Background: In patients with APC-associated polyposis, the prevalence of upper gastrointestinal tumors and the relationship between these and Helicobacter pylori infection have not been clarified in detail. The present study aimed to clarify the features of upper gastrointestinal lesions in patients with APC-associated polyposis. Methods: Consecutive patients with APC-associated polyposis who underwent esophagogastro-duodenoscopy between 2004 and 2018 were recruited. Results: In total, 36 patients were enrolled. The types of gastrointestinal tumor observed were fundic gland polyposis in 28 patients (77.8%), gastric adenoma in 15 patients (41.7%), duodenal adenoma in 27 patients (75.0%) and periampullary adenoma in 20 patients (55.6%). The phenotype of these upper gastrointestinal tumors was not necessarily the same in patients belonging to the same family. Germline variants in the APC gene were distributed across various sites, regardless of the presence or absence of upper gastrointestinal lesions, and none of the tumors correlated with the genotype or phenotype of upper gastrointestinal tumors. Fundic gland polyposis was observed in 28 of 31 patients without a H. pylori infection and in none of the patients with a H. pylori infection (P = 0.00015). After eradication therapy for H. pylori, fundic gland polyposis developed in one, previously infected patient. Conclusion: The upper gastrointestinal tumor phenotype was not associated with the genotype in patients with APC-associated polyposis. Ascertaining the H. pylori infection status is helpful for endoscopic surveillance of upper gastrointestinal tumors in patients with APC-associated polyposis.

Key words

familial adenomatous polyposis/APC gene/upper gastrointestinal neoplasm/FAMILIAL ADENOMATOUS POLYPOSIS/DUODENAL ADENOMATOSIS/COLI GENE

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出版年

2022

Japanese journal of clinical oncology.

ISSN：0368-2811

参考文献量37

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