Faculty of Medicine, Acibadem University, Istanbul, Türkiye.
Department of General Surgery, Faculty of Medicine, Acıbadem University, Istanbul, Türkiye.
Front Immunol. 2023 Jul 7;14:1160586. doi: 10.3389/fimmu.2023.1160586. eCollection 2023.
Mismatch repair (MMR) deficiency is a fundamental factor affecting the management treatment outcomes of colorectal cancer (CRC). MMR status can be diagnosed by both immunohistochemistry (IHC) polymerase chain reaction (PCR). Since tumors with MMR deficiency are prone to respond to immunotherapy immune checkpoint inhibitors are used to treat such tumors.
A 69-year-old male patient presented to an outside clinic with weight loss and abdominal pain. Radiological investigations detected a mesenteric mass of 10 cm, peritoneal implants, and mediastinal lymphadenopathy. The eventual biopsy result from the mesenteric mass was mucinous adenocarcinoma with a goblet cell pattern. Since the IHC result was unclear for deficiency in mismatch repair (dMMR) metastatic CRC (mCRC), the diagnosis was confirmed with PCR. The patient received 8 cycles of FOLFIRINOX + bevacizumab followed by FOLFOX combined with pembrolizumab. No adverse effect was reported related to immunotherapy which resulted in radiologic and metabolic regression. The patient underwent cytoreductive surgery and hyperthermic intraperitoneal chemotherapy (HIPEC). The final pathology results revealed a pathological complete response and R0 resection. In the 6 month follow-up, no recurrence or metastasis was reported.
Chemotherapy and immunotherapy combination is a promising treatment modality which can also be used for mCRC. This is the index case who received chemotherapy in combination with immunotherapy for mucinous adenocarcinoma of the colon with a goblet cell pattern and had pCR.
错配修复(MMR)缺陷是影响结直肠癌(CRC)管理治疗效果的基本因素。MMR 状态可以通过免疫组织化学(IHC)和聚合酶链反应(PCR)来诊断。由于 MMR 缺陷的肿瘤容易对免疫治疗产生反应,因此使用免疫检查点抑制剂来治疗此类肿瘤。
一名 69 岁男性患者因体重减轻和腹痛到外院就诊。影像学检查发现肠系膜肿块 10cm,腹膜种植和纵隔淋巴结病。肠系膜肿块的最终活检结果为具有杯状细胞形态的黏液性腺癌。由于免疫组化结果对错配修复(dMMR)转移性 CRC(mCRC)不明确,因此通过 PCR 确认诊断。患者接受了 8 个周期的 FOLFIRINOX +贝伐珠单抗治疗,然后接受 FOLFOX 联合 pembrolizumab 治疗。免疫治疗没有报告与不良反应相关,导致影像学和代谢学消退。患者接受了细胞减灭术和腹腔热灌注化疗(HIPEC)。最终病理结果显示完全病理缓解和 R0 切除。在 6 个月的随访中,没有报告复发或转移。
化疗和免疫治疗联合是一种很有前途的治疗方法,也可用于 mCRC。这是首例接受化疗联合免疫治疗的结肠黏液腺癌伴杯状细胞形态的病例,达到了 pCR。