3例恶性腹膜间皮瘤的临床表现和基因突变特点分析及文献回顾

目的:分析恶性腹膜间皮瘤(malignant peritoneal mesothelioma,MPeM)患者的临床表现和基因突变特点,观察疾病治疗效果,寻找潜在的靶向和免疫治疗方案。方法:收集2019年12月至2020年9月在我院妇产科收治的3例MPeM患者,对其临床表现、治疗过程及基因突变特点进行分析,并随访其治疗效果及预后。结果:3例MPeM患者,发病年龄为66~70岁,均无石棉暴露史,PCI评分为36~39分,根据病情选择了不同术式,术后进行腹腔灌注或静脉化疗。基因检测结果发现了BAP1、CSF1R、CDKN2A、NF2四个可能具有临床意义的突变,其中CSF1R突变首次在MPeM患者中被发现。3例患者的总生存期为2.2~9.6个月。结论:高龄且肿瘤负荷重的MPeM患者预后较差,应推荐所有明确诊断的MPeM患者进行基因检测,以寻求可能的靶向/免疫治疗获益。

Clinical manifestations and gene mutation characteristics of malignant peritoneal mesothelioma:An analysis of 3 cases and literature review

Objective:To analyze the clinical manifestations and gene mutation characteristics of patients with malignant peritoneal mesothelioma(MPeM),to observe the therapeutic effect,and to look for potential targeted therapy and immunotherapy.Methods:Three patients were diagnosis with MPeM from December 2019 to September 2020 in the department of obstetrics and gynecology of our hospital,and their clinical manifestations,treatment process and gene mutation characteristics were analyzed.Results:Three patients,aged 66~70 years,had no history of asbestos exposure,and the PCI score was 36~39.According to the condition,different surgery is selected,and intraoperative perfusion or venous chemotherapy is performed after surgery.Four mutations of BAP1,CSF1R,CDKN2A,NF2 were found,and CSF1R mutation was found in MPeM patients for the first time.The overall survival of the three patients was 2.2~9.6 months.Conclusion:The prognosis of MPeM patients with advanced age and high tumor burden is poor.Gene testing should be recommended for all MPeM patients in order to seek the benefit of targeted therapy/immunotherapy.