Xiang Dang, Fu Gongbo, Chen Yitian, Chu Xiaoyuan
Department of Medical Oncology, Jinling Hospital, Nanjing Medical University, Nanjing, China.
Department of Medical Oncology, Affiliated Jinling Hospital, Medical School of Nanjing University, Nanjing, China.
Front Oncol. 2023 Mar 16;13:1028179. doi: 10.3389/fonc.2023.1028179. eCollection 2023.
In recent years, although new drugs and molecular markers have been used to treat metastatic colorectal cancer, there has been little progress in the immunotherapy of advanced colon cancer. The development of sequencing and multiomics technology helps us classify patients more accurately, and then find patients who may benefit from immunotherapy. The development of this advanced technology and immunotherapy based on new targets may herald a new era in the treatment of metastatic colorectal cancer. It is well known that colorectal cancer with dmmr/msi-h phenotype is sensitive to immunotherapy, yet the POLE mutation is the MSS phenotype in colorectal tumors but is also an effective target for immunotherapy. This paper describes a case of recurrent intestinal leakage that required multiple surgical procedures. A high-grade colon adenocarcinoma was identified on surgical histopathology after 18 months, and bevacizumab combined with oxaliplatin and capecitabine proved ineffective against this cancer. An analysis of gene expression indicated that POLE (P286R) mutation, TMB 119.333 mutation per 100 MB, and immune checkpoint inhibitor treatment had a significant impact. This case reminds us that the existence of malignant tumors should be considered for patients with repeated intestinal leakage, and emphasizes the importance of gene detection in the treatment of malignant tumors and the significance of POLE mutations in colorectal cancer.
近年来,尽管已使用新药和分子标志物来治疗转移性结直肠癌,但晚期结肠癌的免疫治疗进展甚微。测序和多组学技术的发展有助于我们更准确地对患者进行分类,进而找到可能从免疫治疗中获益的患者。这种先进技术以及基于新靶点的免疫治疗的发展,可能预示着转移性结直肠癌治疗的新时代。众所周知,具有错配修复缺陷(dmmr)/微卫星高度不稳定(msi-h)表型的结直肠癌对免疫治疗敏感,然而POLE突变在结直肠肿瘤中属于微卫星稳定(MSS)表型,但也是免疫治疗的有效靶点。本文描述了一例复发性肠漏病例,该病例需要多次外科手术。18个月后手术组织病理学检查发现高级别结肠腺癌,贝伐单抗联合奥沙利铂和卡培他滨治疗该癌症无效。基因表达分析表明,POLE(P286R)突变、每100兆碱基中119.333个突变的肿瘤突变负荷(TMB)以及免疫检查点抑制剂治疗均有显著影响。该病例提醒我们,对于反复肠漏的患者应考虑存在恶性肿瘤,强调了基因检测在恶性肿瘤治疗中的重要性以及POLE突变在结直肠癌中的意义。