微卫星不稳定性与结直肠癌及癌前病变相关性研究进展
Research Progress on the Relationship between Microsatellite Instability and Colorectal Cancer and Precancerous Lesions
摘要: 结直肠癌(Colorectal cancer)是常见的恶性肿瘤之一,其发病率逐年增高。结直肠癌的发病原因与发病机制十分复杂,由错配修复系统(MMR)异常导致的微卫星不稳定性(MSI)与结直肠癌的发生存在着密切联系,这为结直肠癌诊断与治疗提供了许多思路与方法,其中不少MSI相关的结直肠癌的诊断与治疗方法已应用于临床实践中,特别是Lynch综合征的筛选对于患者及其亲属癌症的早期诊断和治疗至关重要。本文将从MSI及其发生机制、MSI与CRC及癌前病变的相关性和MSI检测方法等方面展开,就MSI与CRC及癌前病变相关性的研究进展做一综述。
Abstract: Colorectal cancer (CRC) is one of the common malignant tumors, and its incidence is increasing year by year. The pathogenesis and pathogenesis of colorectal cancer are very complicated. The microsatellite instability (MSI) caused by the abnormality of the mismatch repair system (MMR) is closely related to the occurrence of colorectal cancer, which is the diagnosis and treatment of colorectal cancer. Many ideas and methods are provided. Many of the diagnosis and treatment methods of MSI-related colorectal cancer have been applied in clinical practice. In particular, the screening of Lynch syndrome is very important for the early diagnosis and treatment of cancer of patients and their relatives. This article will review the correlation between MSI and CRC and precancerous lesions.
文章引用:郑雪, 邹佳芮, 李宝华, 张亚楠, 解水杉, 郝俊梅. 微卫星不稳定性与结直肠癌及癌前病变相关性研究进展[J]. 临床医学进展, 2020, 10(11): 2471-2477. https://doi.org/10.12677/ACM.2020.1011373

参考文献

[1] Keum, N. and Giovannucci, E. (2019) Global Burden of Colorectal Cancer: Emerging Trends, Risk Factors and Prevention Strategies. Nature Reviews. Gastroenterology & Hepatology, 16, 713-732. [Google Scholar] [CrossRef] [PubMed]
[2] Sinicrope, F.A. and Sargent, D.J. (2012) Molecular Pathways: Microsatellite Instability in Colorectal Cancer: Prognostic, Predictive, and Therapeutic Implications. Clinical Cancer Research, 18, 1506-1512. [Google Scholar] [CrossRef
[3] Evrard, C., Tachon, G., Randrian, V., et al. (2019) Microsatellite Instability: Diagnosis, Heterogeneity, Discordance, and Clinical Impact in Colorectal Cancer. Cancers (Basel), 11, 1567. [Google Scholar] [CrossRef] [PubMed]
[4] Mármol, I., Sánchez-de-Diego, C., Pradilla Dieste, A., et al. (2017) Colorectal Carcinoma: A General Overview and Future Perspectives in Colorectal Cancer. International Journal of Molecular Sciences, 18, 197. [Google Scholar] [CrossRef] [PubMed]
[5] Battaglin, F., Naseem, M., Lenz, H., et al. (2018) Microsatellite Instability in Colorectal Cancer: Overview of Its Clinical Significance and Novel Perspectives. Clinical Advances in Hematology & Oncology, 16, 735.
[6] Seth, S., Ager, A., Arends, M.J., et al. (2018) Lynch Syndrome—Cancer Pathways, Heterogeneity and Immune Escape. The Journal of Pathology, 246, 129-133. [Google Scholar] [CrossRef] [PubMed]
[7] Jonchere, V., Marisa, L., Greene, M., et al. (2018) Identification of Positively and Negatively Selected Driver Gene Mutations Associated with Colorectal Cancer with Microsatellite Instability. Cellular and Molecular Gastroenterology and Hepatology, 6, 277-300. [Google Scholar] [CrossRef] [PubMed]
[8] Chen, E., Xu, X. and Liu, T. (2018) Hereditary Nonpolyposis Colorectal Cancer and Cancer Syndromes: Recent Basic and Clinical Discoveries. Journal of Oncology, 2018, 3979111-3979135. [Google Scholar] [CrossRef] [PubMed]
[9] Ahmed, M. (2020) Colon Cancer: A Clinician’s Perspective in 2019. Gastroenterology Research, 13, 1-10. [Google Scholar] [CrossRef] [PubMed]
[10] O’Brien, M.J., Zhao, Q. and Yang, S. (2015) Colorectal Serrated Pathway Cancers and Precursors. Histopathology, 66, 49-65. [Google Scholar] [CrossRef] [PubMed]
[11] Ahadova, A., Gallon, R., Gebert, J., et al. (2018) Three Molecular Pathways Model Colorectal Carcinogenesis in Lynch Syndrome. International Journal of Cancer, 143, 139-150. [Google Scholar] [CrossRef] [PubMed]
[12] Ma, H., Brosens, L.A.A., Offerhaus, G.J.A., et al. (2018) Pathology and Genetics of Hereditary Colorectal Cancer. Pathology, 50, 49-59. [Google Scholar] [CrossRef] [PubMed]
[13] Dabir, P.D., Bruggeling, C.E., van der Post, R.S., et al. (2020) Microsatellite Instability Screening in Colorectal Adenomas to Detect Lynch Syndrome Patients? A Systematic Review and Meta-Analysis. European Journal of Human Genetics, 28, 277-286. [Google Scholar] [CrossRef] [PubMed]
[14] How-Kit, A., Daunay, A., Buhard, O., et al. (2018) Major Improvement in the Detection of Microsatellite Instability in Colorectal Cancer Using HSP110 T17 E-Ice-COLD-PCR. Human Mutation, 39, 441-453. [Google Scholar] [CrossRef] [PubMed]
[15] Zhu, L., Huang, Y., Fang, X., et al. (2018) A Novel and Reliable Method to Detect Microsatellite Instability in Colorectal Cancer by Next-Generation Sequencing. The Journal of Molecular Diagnostics, 20, 225-231. [Google Scholar] [CrossRef] [PubMed]
[16] Paredes, S.R., Chan, C. and Rickard, M. (2020) Immunohistochemistry in Screening for Heritable Colorectal Cancer: What to Do with an Abnormal Result. ANZ Journal of Surgery, 90, 702-707. [Google Scholar] [CrossRef] [PubMed]
[17] Rhees, J., Arnold, M. and Boland, C.R. (2014) Inversion of Exons 1-7 of the MSH2 Gene Is a Frequent Cause of Unexplained Lynch Syndrome in One Local Population. Familial Cancer, 13, 219-225. [Google Scholar] [CrossRef] [PubMed]
[18] Mäki-Nevala, S., Valo, S., Ristimäki, A., et al. (2019) DNA Methylation Changes and Somatic Mutations as Tumorigenic Events in Lynch Syndrome-Associated Adenomas Retaining Mismatch Repair Protein Expression. EBioMedicine, 39, 280-291. [Google Scholar] [CrossRef] [PubMed]
[19] Bandinelli, L.P., Levandowski, M.L. and Grassi-Oliveira, R. (2017) The Childhood Maltreatment Influences on Breast Cancer Patients: A Second Wave Hit Model Hypothesis for Distinct Biological and Behavioral Response. Medical Hypotheses, 108, 86-93. [Google Scholar] [CrossRef] [PubMed]
[20] Yılmaz, A., Mirili, C., Bilici, M., et al. (2020) Colorectal Cancer in Lynch Syndrome Associated with PMS2 and MSH6 Mutations. International Journal of Colorectal Disease, 35, 351-353. [Google Scholar] [CrossRef] [PubMed]
[21] Ladabaum, U., Wang, G., Terdiman, J., et al. (2011) Strategies to Identify the Lynch Syndrome among Patients with Colorectal Cancer: A Cost-Effectiveness Analysis. Annals of Internal Medicine, 155, 69-79. [Google Scholar] [CrossRef] [PubMed]
[22] Parsons, M.T., Buchanan, D.D., Thompson, B., et al. (2012) Correlation of Tumour BRAF Mutations and MLH1 Methylation with Germline Mismatch Repair (MMR) Gene Mutation Status: A Literature Review Assessing Utility of Tumour Features for MMR Variant Classification. Journal of Medical Genetics, 49, 151-157. [Google Scholar] [CrossRef] [PubMed]
[23] 白雪杉, 林国乐. V1版《NCCN结直肠癌诊治指南》更新要点解析[J]. 中国全科医学, 2019, 22(33): 4031-4034.
[24] Capper, D., Voigt, A., Bozukova, G., et al. (2013) BRAF V600E-Specific Immunohistochemistry for the Exclusion of Lynch Syndrome in MSI-H Colorectal Cancer. International Journal of Cancer, 133, 1624-1630. [Google Scholar] [CrossRef] [PubMed]
[25] Kašubová, I., Holubeková, V., Janíková, K., et al. (2018) Next Generation Sequencing in Molecular Diagnosis of Lynch Syndrome—A Pilot Study Using New Stratification Criteria. Acta Medica (Hradec Kralove, Czech Republic), 61, 98-102. [Google Scholar] [CrossRef] [PubMed]
[26] Leenen, C.H.M., Goverde, A., de Bekker-Grob, E.W., et al. (2016) Cost-Effectiveness of Routine Screening for Lynch Syndrome in Colorectal Cancer Patients Up to 70 Years of Age. Genetics in Medicine, 18, 966-973. [Google Scholar] [CrossRef] [PubMed]
[27] Navarro, M., Nicolas, A., Ferrandez, A., et al. (2017) Colorectal Cancer Population Screening Programs Worldwide in 2016: An Update. World Journal of Gastroenterology, 23, 3632. [Google Scholar] [CrossRef] [PubMed]
[28] Mendelsohn, R.B., Herzog, K., Shia, J., et al. (2017) Molecular Screening for Lynch Syndrome in Young Patients with Colorectal Adenomas. Clinical Colorectal Cancer, 16, 173-177. [Google Scholar] [CrossRef] [PubMed]