高分化肝细胞癌患者肝移植后肿瘤复发转化为低分化癌以及表现为特殊分子遗传学特征:1例报道  

Recurrent hepatocellular carcinoma after liver transplantation developed into a special molecular and histopathological transformation:one case report

作　　者：刘泽兵 沈艳莹[1] 冯浩 曹杰 LIU Zebing;SHEN Yanying;FENG Hao;CAO Jie(Department of Pathology,Renji Hospital,Shanghai Jiao Tong University School of Medicine,Shanghai 200127,China;Department of Liver Surgery,Renji Hospital,Shanghai Jiao Tong University School of Medicine,Shanghai 200127,China)

机构地区：[1]上海交通大学医学院附属仁济医院病理科,上海200127 [2]上海交通大学医学院附属仁济医院肝外科,上海200127

出　　处：《肿瘤》2024年第8期885-890,共6页Tumor

基　　金：上海交通大学医学院“双百人”研究型医师人才建设项目(2022)

摘　　要：目的:描述原发性肝细胞癌(hepatocellular carcinoma,HCC)患者肝移植后复发肿瘤的特殊转化。方法:报道1例肝移植后肿瘤复发转化为特殊的组织学形态和分子遗传学特征的HCC患者的诊疗过程。结果:1例高分化HCC患者在肝恶性肿瘤切除术后接受免疫检查点抑制剂联合抗血管生成药物治疗。近1年后因重度肝硬化接受同种异体原位肝移植。2年余后发现血清甲胎蛋白水平升高,PET-CT检查发现肝右叶多处可疑占位病灶,表现为^(18)F-FDG代谢增高。肝穿刺活检进行病理学检查和高通量测序,诊断为低分化HCC伴YAP1-MAML2融合基因。给予XELOX方案化疗和放疗,随访未见肿瘤进展。结论:HCC肝移植后复发肿瘤可能发生低分化转化且伴有YAP1-MAML2融合基因形成。YAP1-MAML2融合基因的形成可能与肝移植后免疫环境发生剧烈变化,从而诱导基因组学发生巨变有关,而YAP1-MAML2融合基因可能是肝移植后复发肿瘤转化为低分化癌的驱动因素。Objective:To describe the special molecular and histopathological transformation of recurrent tumor in a patient with primary hepatocellular carcinoma(HCC)after liver transplantation.Methods:A case of HCC had recurrent tumor presenting special molecular and histopathological characteristics after liver transplantation.The diagnosis and treatment process of this case is reported.Results:A case of highly differentiated HCC received immune checkpoint inhibitors combined with antiangiogenic therapy after liver malignant tumor resection.Nearly one year later,due to severe liver cirrhosis,the case accepted allogeneic orthotopic transplantation of liver.More than two years later,elevated level of serum alpha fetoprotein was detected,then the PET-CT examination showed multiple suspected lesions with increased ^(18)F-FDG metabolism in the right lobe of the liver.Liver biopsy and highthroughput sequencing were performed,and the results revealed poorly differentiated HCC with YAP1-MAML2 fusion gene.Chemotherapy with XELOX regimen and radiotherapy were administered,and no tumor progression was observed during follow-up.Conclusion:Recurrent tumors after liver transplantation in HCC patient developing into a special molecular and histopathological transformation is rarely reported.The underlying mechanism could be the dramatical alterations of immune microenvironment after liver transplantation,which consequently triggered genomic changes leading to generate novel YAP1-MAML2 fusion gene.The poor differentiation transformation after liver transplantation may be driven by YAP1-MAML2 fusion gene.

关 键 词：肝细胞癌 肝移植 肿瘤复发 病理诊断 基因组变化 

分 类 号：R735.7[医药卫生—肿瘤]