FAP外科管理的最新进展。

IF 1.2 4区 医学 Q4 GASTROENTEROLOGY & HEPATOLOGY
Clinics in Colon and Rectal Surgery Pub Date : 2023-04-17 eCollection Date: 2023-11-01 DOI:10.1055/s-0043-1767707
Tianqi Zhang, Ye Xu
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引用次数: 0

摘要

家族性腺瘤性息肉病(FAP)是一种由致病性种系腺瘤性息肉症大肠杆菌突变引起的常染色体显性遗传疾病,以结肠和直肠多发性腺瘤为特征。各种遗传变异已被证实与相应的FAP表型相关,这些表型在FAP的诊断和外科治疗中发挥着重要作用。一般来说,建议20多岁的FAP患者进行顺产切除术。例外情况下,对于FAP减毒、硬纤维瘤高危、化学预防治疗或其他情况的患者,手术可以推迟。随着微创手术在癌症大肠癌中的广泛应用,腹腔镜、机器人手术和自然孔口标本提取被证明对FAP患者是可行的,但还需要高水平的证据来证实其安全性和优势。在精准医学时代,FAP的手术治疗应根据基因型、表型和临床实践的不同而有所不同。因此,除了手术程序的创新外,研究遗传特征和表型之间的联系将有助于优化未来FAP的手术管理。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Update on Surgical Management of FAP.

Familial adenomatous polyposis (FAP) is an autosomal dominant disease caused by pathogenic germline adenomatous polyposis coli mutation, and characterized with multiple adenomas in the colon and the rectum. Various genetic variants have been confirmed to be associated with corresponding FAP phenotypes, which play important roles in the diagnosis and surgical treatment of FAP. Generally, proctocolectomy is recommended for FAP patients at the age of 20s. Exceptionally, for patients with attenuated FAP, high-risk of desmoid, chemoprevention therapy, or other circumstances, surgery can be postponed. With the wide application of minimal invasive surgery in colorectal cancer, laparoscopic, robotic surgery, and natural orifice specimen extraction are proved to be feasible for FAP patients, but high-level evidences are needed to confirm their safety and advantages. In the times of precise medicine, the surgical management of FAP should vary with individuals based on genotype, phenotype, and clinical practice. Therefore, in addition to innovation in surgical procedures, investigation in links between genetic features and phenotypes will be helpful to optimize the surgical management of FAP in the future.

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来源期刊
Clinics in Colon and Rectal Surgery
Clinics in Colon and Rectal Surgery GASTROENTEROLOGY & HEPATOLOGYSURGERY-SURGERY
CiteScore
2.60
自引率
7.10%
发文量
84
期刊介绍: Clinics in Colon and Rectal Surgery is a review journal that publishes topic-specific issues on diseases of the small bowel, colon, rectum, and anus. Designed for clinicians, researchers, and educators involved with diseases of the intestinal tract, the journal covers a broad spectrum of basic information, controversial clinical issues, and established and innovative diagnostic techniques. Issue topics comprehensively cover the entire specialty over a 3-4 year period, allowing the articles to serve as study material for educational programs and certifying examinations. The inclusion of research and clinical material also allows physicians to remain knowledgeable of current advances in the specialty.
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