Hereditary Colorectal Cancer: From Diagnosis to Surgical Options

IF 1.2 4区 医学 Q4 GASTROENTEROLOGY & HEPATOLOGY Clinics in Colon and Rectal Surgery Pub Date : 2024-07-03 DOI:10.1055/s-0044-1787884
Rami James N. Aoun, Matthew F. Kalady
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Abstract

Hereditary colorectal cancer (CRC) syndromes account for up to 5% of CRC. Patients have an increased risk of CRC and extracolonic cancers, both of which develop at an early age. The main polyposis syndromes include familial adenomatous polyposis, MYH-associated polyposis, Peutz-Jeghers syndrome, juvenile polyposis syndrome, and PTEN hamartoma syndrome. The non-polyposis syndromes include Lynch syndrome and familial colorectal cancer type X. Each of the syndromes have distinct but sometimes overlapping phenotypes. Clinical evaluation and ultimately the underlying germline genetic pathogenic variants define the syndromes. Each syndrome has polyp, CRC, and extracolonic risks and management is based on early and timely surveillance with therapeutic and often extended prophylactic surgery. Surgical intervention strategies are individualized, considering not only the earlier onset of malignancies and heightened risks for metachronous cancers but also the patient's needs and quality of life. This article reviews the different diagnostic approaches to hereditary CRC and highlights subsequent disease-specific management and surgical decision-making strategies.

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遗传性结直肠癌:从诊断到手术选择
遗传性结直肠癌(CRC)综合征占 CRC 的 5%。患者罹患 CRC 和结肠外癌的风险都会增加,这两种癌症都会在患者幼年时发病。主要的息肉病综合征包括家族性腺瘤性息肉病、MYH 相关性息肉病、Peutz-Jeghers 综合征、幼年息肉病综合征和 PTEN 仓瘤综合征。非息肉病综合征包括林奇综合征(Lynch Syndrome)和家族性结直肠癌 X 型。临床评估和潜在的种系遗传致病变异最终确定了这些综合征。每种综合征都有息肉、结肠癌和结肠外风险,管理的基础是早期和及时监测,并进行治疗性手术,通常还包括延长的预防性手术。手术干预策略因人而异,不仅要考虑恶性肿瘤发病较早和近代癌症风险较高的因素,还要考虑患者的需求和生活质量。本文回顾了遗传性 CRC 的不同诊断方法,并重点介绍了随后的特定疾病管理和手术决策策略。
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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.
期刊最新文献
Corrigendum: Current Position of Sacral Neuromodulation in Treatment of Fecal Incontinence. Current Trends in the Management of a Complex Polyp: Endoscopy versus Surgery Hereditary Colorectal Cancer: From Diagnosis to Surgical Options The Young: Early-Onset Colon Cancer The Old: Is There Any Role for Screening Colonoscopy after the Age of 75? The Surgeon's Perspective
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