期刊
INTERNATIONAL JOURNAL OF CANCER
卷 148, 期 4, 页码 800-811出版社
WILEY
DOI: 10.1002/ijc.33224
关键词
colonoscopy surveillance; colorectal cancer; incident cancer risk; Lynch syndrome; microsatellite instability; mismatch repair deficiency
类别
资金
- Wilhelm Sander Foundation
- Finnish Cancer Foundation
- Jane and Aatos Erkko Foundation
- Emil Aaltonen Foundation
- Finnish Medical Foundation
- Sigrid Juselius Foundation
- Instrumentarium Science Foundation
- Projekt DEAL
Despite regular colonoscopy, a significant proportion of individuals with Lynch syndrome still develop colorectal cancer, leading to debates on the reasons behind this surprising observation. Further studies are needed to address this issue and improve CRC prevention strategies for LS individuals.
Individuals with Lynch syndrome (LS), one of the most common inherited cancer syndromes, are at increased risk of developing malignancies, in particular colorectal cancer (CRC). Regular colonoscopy with polypectomy is recommended to reduce CRC risk in LS individuals. However, recent independent studies demonstrated that a substantial proportion of LS individuals develop CRC despite regular colonoscopy. The reasons for this surprising observation confirmed by large prospective studies are a matter of debate. In this review, we collect existing evidence from clinical, epidemiological and molecular studies and interpret them with regard to the origins and progression of LS-associated CRC. Alongside with hypotheses addressing colonoscopy quality and pace of progression from adenoma to cancer, we discuss the role of alternative precursors and immune system in LS-associated CRC. We also identify gaps in current knowledge and make suggestions for future studies aiming at improved CRC prevention for LS individuals.
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