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ID 116979
タイトル別表記
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
著者
田中, 久美子 徳島大学大学院医科学教育部(医学専攻)
Ishikawa, Hideki Kyoto Prefectural University of Medicine|Ishikawa Gastroenterology Clinic
寺前, 智史 Tokushima University
Takeuchi, Yoji Osaka International Cancer Institute
Sonoda, Tomoko Sapporo Medical University
Ohmiya, Naoki Fujita Health University
Mutoh, Michihiro Kyoto Prefectural University of Medicine
キーワード
FAP
small intestinal polyps
capsule endoscopy
APC
adenoma with high-grade dysplasia
Multivariate logistic analysis
Spigelman score
Duodenal polyp
資料タイプ
学位論文
抄録
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.
掲載誌名
Techniques and Innovations in Gastrointestinal Endoscopy
ISSN
25900307
出版者
Elsevier
24
1
開始ページ
26
終了ページ
34
発行日
2021-10-21
備考
内容要旨・審査要旨・論文本文の公開
本論文は,著者Kumiko Tanakaの学位論文として提出され,学位審査・授与の対象となっている。
EDB ID
出版社版DOI
出版社版URL
フルテキストファイル
言語
eng
著者版フラグ
博士論文全文を含む
文科省報告番号
甲第3588号
学位記番号
甲医第1529号
学位授与年月日
2022-03-16
学位名
博士(医学)
学位授与機関
徳島大学
部局
病院
医学系