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

• Material Type: 博士論文
• Title: Small Intestinal Involvement and Genotype-Phenotype Correlation in Familial Adenomatous Polyposis
• 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
• No. or year of volume/issue: 24 1
• Volume: 24
• Issue: 1
• Pages: 26-34
• ISSN (Periodical Title): ISSN : 2590-0307
• Degree grantor/type: 徳島大学
• Date Granted: 2022-03-16
• Dissertation Number: 甲第3588号
• Degree Type: 博士（医学）
• 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.
• Format (IMT): application/pdf
• Access Restrictions: インターネット公開
• Related Material (DOI): 10.001
• Data Provider (Database): 国立情報学研究所 : 学術機関リポジトリデータベース（IRDB）（機関リポジトリ）; https://irdb.nii.ac.jp
• Original Data Provider (Database): 徳島大学 : 徳島大学機関リポジトリ

Table of Contents

http://repo.lib.tokushima-u.ac.jp/files/public/11/116979/20220428151830275147/k3588_abstract.pdf fulltext

http://repo.lib.tokushima-u.ac.jp/files/public/11/116979/20220428151830618458/k3588_review.pdf fulltext

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