Small Intestinal Involvement and Genotype-Phenotype Correlation in Familial Adenomatous Polyposis

• Material Type: 博士論文
• ISSN: 2590-0307
• Title: Small Intestinal Involvement and Genotype-Phenotype Correlation in Familial Adenomatous Polyposis
• Volume: 24 1
• Author/Editor: Tanaka, Kumiko; Sato, Yasushi; Ishikawa, Hideki; Muguruma, Naoki; Teramae, Satoshi; Takeuchi, Yoji; Mitsui, Yasuhiro; Okamoto, Koichi; Miyamoto, Hiroshi; Bando, Yoshimi; Sonoda, Tomoko; Ohmiya, Naoki; Mutoh, Michihiro; Takayama, Tetsuji
• Author Heading: Tanaka, Kumiko; Sato, Yasushi; Ishikawa, Hideki; Muguruma, Naoki; Teramae, Satoshi; Takeuchi, Yoji; Mitsui, Yasuhiro; Okamoto, Koichi; Miyamoto, Hiroshi; Bando, Yoshimi; Sonoda, Tomoko; Ohmiya, Naoki; Mutoh, Michihiro; Takayama, Tetsuji
• Publication, Distribution, etc.: Elsevier
• Publication Date: 2021-10-21
• Publication Date (W3CDTF): 2021-10-21
• Alternative Title: 家族性大腸腺腫症における小腸病変と遺伝型-表現型の関係; Small Intestinal Involvement in FAP
• Periodical title: Techniques and Innovations in Gastrointestinal Endoscopy
• Degree grantor/type: 徳島大学
• Date Granted: 2022-03-16
• Date Granted (W3CDTF): 2022-03-16
• Dissertation Number: 甲第3588号
• Degree Type: 博士（医学）
• Conferring No. (Dissertation): 甲第3588号
• Text Language Code: eng
• Subject Heading: FAP; small intestinal polyps; capsule endoscopy; APC; adenoma with high-grade dysplasia; Multivariate logistic analysis; Spigelman score; Duodenal polyp
• Target Audience: 一般
• Note (General): BACKGROUND AND AIMS: Small intestinal involvement in familial adenomatous polyposis (FAP) remains unclarified. We performed capsule endoscopy (CE) and balloon-assisted (BA) endoscopy to analyze small intestinal polyps and their genotype-phenotype correlations in a large cohort of FAP patients.METHODS: In this retrospective study, we performed CE in all 149 FAP patients and BA endoscopy in 74 patients with larger polyps. The prevalence of small intestinal adenoma with high-grade dysplasia and cancer was investigated. Correlation between APC variant and polyp phenotype was analyzed.RESULTS: Median patient age was 44 years and 69% were male. Pathogenic germline APC variants were found in 117/136 (86.1%). Overall prevalence and median number of small intestinal polyps were 85.2% (127/149) and 17 (IQR 6-36), respectively. A total of 5318 polyps were detected by CE and all 433 polyps histologically examined were confirmed as adenoma. The number of polyps significantly decreased from the proximal-to-distal tracts. Adenoma with high-grade dysplasia was detected in 26.2% (39/149), and its incidence among the polyps was approximately 1.4% (74/5318). Of these, 14 were intramucosal carcinomas with a prevalence of 5.4% (8/149). The germline APC variant in codon 1251-1580 was significantly correlated with a high number of small intestinal polyps. Multivariate analysis revealed APC variant in codon 1251-1580 and a high number of small intestinal polyps as independent risk factors for adenoma with high-grade dysplasia. Spigelman stage was significantly associated with number of jejunal/ileal polyps and their high-grade dysplasia.CONCLUSION: Among FAP patients, small intestinal adenoma with high-grade dysplasia was detected in 26.2% and cancer in 5.4%. FAP patients, particularly those with APC variant in codon 1251-1580 and/or high Spigelman stage may require surveillance for small intestinal polyps.
• DOI: info:doi/10.1016/j.tige.2021.10.001; https://doi.org/info:doi/10.1016/j.tige.2021.10.001
• Persistent ID (NDL): info:ndljp/pid/12296798; https://dl.ndl.go.jp/pid/12296798
• Collection (particular): 国立国会図書館デジタルコレクション > デジタル化資料 > 博士論文; https://dl.ndl.go.jp/collections/A00014
• Acquisition Basis: 博士論文（自動収集）
• Date Accepted (W3CDTF): 2022-06-05T18:01:14+09:00
• Format (IMT): application/pdf
• Access Restrictions: 国立国会図書館内限定公開
• Service for the Digitized Contents Transmission Service: 図書館・個人送信対象外
• Availability of remote photoduplication service: 可
• Periodical Title (URI): http://repo.lib.tokushima-u.ac.jp/116979
• Data Provider (Database): 国立国会図書館 : 国立国会図書館デジタルコレクション; https://dl.ndl.go.jp