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A Case Presentation of a Patient with Microsatellite Instability and BRAF Mutant Metastatic Colon Cancer and Bibliography Update

机译:一例微卫星不稳定性和BRAF突变转移性结肠癌患者的文献报道及参考书目更新

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摘要

This is a case of a patient who presented to the emergency department with acute abdominal pain due to bowel obstruction. An extended right hemicolectomy with ileosigmoid anastomosis due to an obstructing mass on the splenic flexure was urgently performed. During operation, liver and peritoneal lesions were detected and samples were also sent for histological analysis. Pathology report was consistent with poorly differentiated mucinous adenocarcinoma with signet ring cells; peritoneal lesions were confirmed histologically as metastatic. Genetic testing revealed the BRAFV600E mutation and mismatch repair deficiency (dMMR). After progressing on 1st line chemotherapy, the patient has a continuing and long-lasting partial response to 2nd line treatment with pembrolizumab.
机译:这是一例因肠梗阻导致急诊腹痛的急诊患者。迫切需要进行扩大的右半结肠切除术,由于脾弯曲受阻而导致回肠乙状结肠吻合。手术期间,检测到肝和腹膜病变,并送检样本进行组织学分析。病理报告与具有印戒细胞的低分化粘液性腺癌一致。组织学证实腹膜病变为转移性。基因检测发现BRAF V600E 突变和错配修复缺陷(dMMR)。在进行一线化疗后,患者对使用pembrolizumab的二线治疗具有持续且持久的部分反应。

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