Vangala Deepak, Nilius-Eliliwi Verena
Center for hemato-oncological diseases, Knappschaftskrankenhaus Bochum, Ruhr-Universität Bochum, Bochum, Deutschland.
Zentralbl Chir. 2023 Dec;148(6):475-482. doi: 10.1055/a-2012-4047. Epub 2023 Feb 27.
Approximately 15% of patients with colorectal cancer show high microsatellite instability (MSI-high) in their tumour tissue. For one third of these patients, there is a hereditary cause for this finding - that leads to the diagnosis of Lynch Syndrome. In combination with clinical findings such as the Amsterdam or the revised Bethesda criteria, MSI-high status has been used as a tool in identifying patients at risk. Today, MSI-status has gained much more importance, due to its impact on treatment decisions. Patients with UICC II cancers should not receive adjuvant treatment. For patients with distant metastases and MSI-high status, immune checkpoint inhibitors can be given as first line therapy - with tremendous success. Novel data show a deep response for immune checkpoint antibodies in patients with locally advanced colon as well as rectal cancer in a neoadjuvant setting. Especially for patients with MSI-high rectal cancer, there might be a novel therapeutic regimen utilising immune checkpoint inhibitors without neoadjuvant radio-chemotherapy and even without surgery. This could lead to a relevant reduction in morbidity in this patient cohort. In conclusion, universal MSI-testing is essential for identifying patients at risk for Lynch syndrome and for optimal decision making in treatment planning.
约15%的结直肠癌患者肿瘤组织显示微卫星高度不稳定(MSI-High)。在这些患者中,三分之一存在遗传因素导致这一结果,进而可诊断为林奇综合征。结合阿姆斯特丹标准或修订后的贝塞斯达标准等临床发现,MSI-High状态已被用作识别高危患者的工具。如今,由于其对治疗决策的影响,MSI状态变得更为重要。国际抗癌联盟(UICC)II期癌症患者不应接受辅助治疗。对于有远处转移且MSI-High状态的患者,免疫检查点抑制剂可作为一线治疗药物,且取得了巨大成功。新数据显示,在新辅助治疗中,免疫检查点抗体对局部晚期结肠癌和直肠癌患者有显著疗效。特别是对于MSI-High的直肠癌患者,可能存在一种新的治疗方案,即使用免疫检查点抑制剂,无需新辅助放化疗,甚至无需手术。这可能会使该患者群体的发病率显著降低。总之,进行普遍的MSI检测对于识别林奇综合征高危患者以及在治疗规划中做出最佳决策至关重要。