文章：

遗传性结直肠癌综合征与炎症性肠病：风险管理与监测策略

Hereditary Colorectal Cancer Syndromes and Inflammatory Bowel Diseases: Risk Management and Surveillance Strategies

原文发布日期：26 August 2024

DOI: 10.3390/cancers16172967

类型: Article

开放获取: 是

英文摘要：

Background and aims: Hereditary colorectal cancer syndromes (HCCS), including familial adenomatous polyposis (FAP) and Lynch syndrome (LS), are the two most important high-risk conditions for colorectal cancer (CRC). Inflammatory bowel disease (IBD) increases the risk by two to six times compared with that in the general population. The intersection of these two conditions has rarely been documented in literature. We aimed to summarize the prevalence, pathogenesis, and current evidence-based management of IBD and HCCS and the underlying molecular mechanisms of accelerated carcinogenesis due to combined inflammation and genetic predisposition.Methods: PubMed and Scopus were searched until June 2024 to identify relevant studies investigating the epidemiology, pathogenesis, and management of IBD and coexisting hereditary CRC syndromes.Results: Co-occurrence of IBD and hereditary CRC syndromes is exceptionally uncommon. Individuals with LS and IBD tend to develop CRC at a younger age than those without IBD, with patients with ulcerative colitis facing particularly elevated risks. The interaction between mismatch deficiency and chronic inflammation requires further investigation.

摘要翻译： 

背景与目的：遗传性结直肠癌综合征（HCCS），包括家族性腺瘤性息肉病（FAP）和林奇综合征（LS），是结直肠癌（CRC）最重要的两种高危因素。炎症性肠病（IBD）患者罹患CRC的风险较普通人群高出2至6倍。然而，这两种疾病共存的情况在文献中鲜有记载。本研究旨在总结IBD与HCCS共存的流行病学特征、发病机制及当前循证管理策略，并探讨炎症与遗传易感性共同作用下加速癌变的潜在分子机制。 方法：检索截至2024年6月的PubMed和Scopus数据库，筛选研究IBD与遗传性结直肠癌综合征共存的流行病学、发病机制及管理策略的相关文献。 结果：IBD与遗传性结直肠癌综合征共存的情况极为罕见。与未患IBD的LS患者相比，同时患有LS和IBD的个体更早发生CRC，其中溃疡性结肠炎患者的风险尤为突出。错配修复缺陷与慢性炎症之间的相互作用机制仍需进一步研究。

原文链接：

Hereditary Colorectal Cancer Syndromes and Inflammatory Bowel Diseases: Risk Management and Surveillance Strategies