Colle Raphaël, Cohen Romain, Cochereau Delphine, Duval Alex, Lascols Olivier, Lopez-Trabada Daniel, Afchain Pauline, Trouilloud Isabelle, Parc Yann, Lefevre Jérémie H, Fléjou Jean-François, Svrcek Magali, André Thierry
Department of Medical Oncology, Hôpital Saint-Antoine, AP-HP, 184, rue du Faubourg Saint-Antoine, 75012 Paris, France.
Department of Medical Oncology, Hôpital Saint-Antoine, AP-HP, 184, rue du Faubourg Saint-Antoine, 75012 Paris, France; INSERM, Unité Mixte de Recherche Scientifique 938, Centre de Recherche Saint-Antoine, Equipe Instabilité des Microsatellites et Cancer, Equipe labellisée par la Ligue Nationale contre le Cancer, 184, rue du Faubourg Saint-Antoine, 75012 Paris, France; Sorbonne Universités, UPMC Univ Paris 06, France.
Bull Cancer. 2017 Jan;104(1):42-51. doi: 10.1016/j.bulcan.2016.11.006. Epub 2016 Dec 13.
Microsatellite instability (MSI) is a tumor phenotype linked to somatic or germline (Lynch syndrome) inactivating alterations of DNA mismatch repair genes. A broad spectrum of neoplasms exhibits MSI phenotype, mainly colorectal cancer, endometrial cancer, and gastric cancer. MSI tumors are characterized by dense immune infiltration and high load of tumor neo-antigens. Growing evidence is accumulating on the efficacy of immune checkpoint inhibition for patients treated for MSI solid tumors. We present a comprehensive overview of MSI phenotype, its biological landscape and current diagnostic methods. Then we focus on MSI as a predictive biomarker of response to immune checkpoint inhibition in the context of colorectal cancer and non-colorectal tumors.
微卫星不稳定性(MSI)是一种与DNA错配修复基因的体细胞或种系(林奇综合征)失活改变相关的肿瘤表型。多种肿瘤表现出MSI表型,主要是结直肠癌、子宫内膜癌和胃癌。MSI肿瘤的特征是密集的免疫浸润和高负荷的肿瘤新抗原。越来越多的证据表明免疫检查点抑制对MSI实体瘤患者的疗效。我们全面概述了MSI表型、其生物学背景和当前的诊断方法。然后我们重点关注MSI作为结直肠癌和非结直肠癌背景下免疫检查点抑制反应的预测生物标志物。