达沙替尼治疗e8a2 BCR-ABL1慢性粒细胞白血病1例并文献复习  

A case of e8a2 BCR-ABL1 chronic myeloid leukemia treated with dasatinib and literature review

作　　者：向航 吴耀辉[2] 李小青[3] 陈丽凤[2] 黎纬明[2] XIANG Hang WU Yaohui LI Xiaoqing CHEN Li feng LI Weirning(Department of Hematology, the Central Hospital of Enshi Autonomous Prefecture, Enshi, 445000, China Department of Hematology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology the Center of Stem Cell Research and Application, Union Hospital,Tongji Medical College, Huazhong University of Science and Technology)

机构地区：[1]湖北省恩施州中心医院血液内科,湖北恩施445000 [2]华中科技大学同济医学院附属协和医院血液内科 [3]华中科技大学同济医学院附属协和医院干细胞研究与应用中心

出　　处：《临床血液学杂志》2016年第5期752-754,共3页Journal of Clinical Hematology

摘　　要：目的:探讨国产达沙替尼治疗e8a2 BCR-ABL1慢性粒细胞白血病的疗效。方法:患者,男,25岁,因"恶心、厌食"1周来诊。血常规检查、骨髓细胞学检查及骨髓活检免疫组织化学检查支持慢性粒细胞白血病(慢性期)诊断。经典G显带技术、FISH检查和巢式PCR产物测序分析发现该患者无明显Ph染色体,同时BCRABL1融合基因转录本为非经典型e8a2,由22号染色体上BCR基因片段插入9号染色体ABL1基因产生。结果:该患者经羟基脲治疗10d后获得完全血液学缓解,随后国产达沙替尼治疗3个月后获得完全细胞生物学缓解和早期分子生物学缓解,6个月时获主要分子生物学缓解。达沙替尼治疗期间无胸腔积液、发热、肺炎等不良反应发生。结论:该患者诊治经验提示,国产达沙替尼用于e8a2 BCR-ABL1慢性粒细胞白血病(慢性期)患者有效且安全。Objective：To explore the effect of domestic dasatinib on chronic myeloid leukemia.Method：A 25 years old male patient was admitted with symptoms of anorexia and nausea lasting for one week.The diagnosis of chronic myeloid leukemia chronic phase was established supported by blood test,examination of bone marrow cells and immunohistological observation of bone marrow biopsy.Conventional cytogenetic GTG-banding analysis,interphase FISH analysis and sequencing of nested PCR products revealed a novel e8a2 BCR-ABL1 intronic fusion through insertion of a chromosome 22 BCR gene fragment into chromosome 9 with an atypical Philadelphia chromosome.Result：This patient achieved complete hematologic response after 10 days treatment with hydroxyurea,complete cytogenetic response and early molecular response after 3 months treatment with domestic dasatinib.Major molecular response was achieved at 6 months.No adverse effects,such as pleural effusion,fever,or pneumonia,were observed during treatment.Conclusion：It suggests that it is effective and safe to treat e8a2 BCR-ABL1 chronic myeloid leukemia chronic phase patient with domestic dasatinib.

关 键 词：达沙替尼 白血病 粒细胞 慢性 e8a2 早期分子生物学反应 

分 类 号：R733.72[医药卫生—肿瘤]