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
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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
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キーワード | FAP
small intestinal polyps
capsule endoscopy
APC
adenoma with high-grade dysplasia
Multivariate logistic analysis
Spigelman score
Duodenal polyp
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資料タイプ |
学位論文
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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
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ISSN | 25900307
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出版者 | Elsevier
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巻 | 24
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号 | 1
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開始ページ | 26
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終了ページ | 34
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発行日 | 2021-10-21
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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
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著者版フラグ |
博士論文全文を含む
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文科省報告番号 | 甲第3588号
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学位記番号 | 甲医第1529号
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学位授与年月日 | 2022-03-16
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学位名 |
博士(医学)
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学位授与機関 |
徳島大学
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部局 |
病院
医学系
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