BCR∷ABL1和CBFB∷MYH11融合基因双表达的髓系白血病3例报道并文献复习  

Co-expression of BCR∷ABL1 and CBFB∷MYH11 fusion genes in myeloid leukemia:three cases report and literature review

作　　者：王梦淼 黄斯漫 万超玲 吴天梅 李岩岩 曹涵钰 申向东 邱艳 葛帅帅 周海侠[1] 李正[1] 孙爱宁[1] 薛胜利[1] WANG Mengmiao;HUANG Siman;WAN Chaoling;WU Tianmei;LI Yanyan;CAO Hanyu;SHEN Xiangdong;QIU Yan;GE Shuaishuai;ZHOU Haixia;LI Zheng;SUN Aining;XUE Shengli(National Clinical Research Center for Hematologic Diseases,Jiangsu Institute of Hematology,Department of Hematology of the First Affiliated Hospital of Soochow University,Suzhou,215006,China)

机构地区：[1]国家血液系统疾病临床医学研究中心,江苏省血液研究所,苏州大学附属第一医院血液科,江苏苏州215006

出　　处：《临床血液学杂志》2023年第5期360-365,共6页Journal of Clinical Hematology

基　　金：国家自然科学基金(No:81970138,82270165);江苏省自然科学基金(No:BK20221235);江苏省科技厅社会发展面上项目(No:BE2021649)。

摘　　要：目的:总结BCR∷ABL1和CBFB∷MYH11融合基因双表达的髓系白血病临床特征及鉴别要点。方法:回顾性分析苏州大学附属第一医院3例BCR∷ABL1和CBFB∷MYH11融合基因双表达患者的临床特征,并进行文献复习,总结既往文献对于该类疾病的特征描述及鉴别要点。结果:3例均为BCR∷ABL1和CBFB∷MYH11融合基因双表达髓系白血病患者,病例1和3诊断为CML-CP,BCR∷ABL1融合基因转录本为P210型,病例2诊断为AML,BCR∷ABL1融合基因转录本为P190型;3例患者均进行化疗后续接造血干细胞移植,病例1移植后出现髓内外同时复发,治疗无效死亡;病例2移植后至今仍处于完全缓解状态;病例3移植后出现ABL1激酶区T315I突变,且髓内外同时复发,治疗无效死亡。结论:BCR∷ABL1融合基因转录本类型、BCR∷ABL1和CBFB∷MYH11融合基因出现顺序和复杂核型类别有利于BCR∷ABL1和CBFB∷MYH11融合基因双表达的髓系白血病的鉴别诊断。对于BCR∷ABL1和CBFB∷MYH11融合基因双表达的髓系白血病的鉴别诊断,未来有待更多的临床病例积累和实验室检测的总结探索。Objective To summarize the differential diagnosis and the clinical characteristics of the myeloid leukemia with co-expression of BCR∷ABL1 and CBFB∷MYH11 fusion genes.Methods The article retrospectively analyzed the clinical characteristics of three cases with co-expression of BCR∷ABL1 and CBFB∷MYH11 fusion genes in the First Affiliated Hospital of Soochow University and summarized the the clinical characteristics and differential diagnosis according to previous literature reports.Results All 3 cases were myeloid leukemia with co-expression of BCR∷ABL1 and CBFB∷MYH11 fusion genes.Case 1 and case 3 were diagnosed with CML-CP and BCR∷ABL1 fusion gene transcript was P210.Case 2 was diagnosed with AML and BCR∷ABL1 fusion gene transcript was P190.Hematopoietic stem cell transplantation was followed by chemotherapy in all 3 cases.Case 1,had a intramedullary and extramedullary relapse which resulted in ineffective treatment and death.Case 2 remained in complete remission till now after transplantation.In case 3,ABL1 kinase T315I mutation occurred after transplantation.Simultaneously intramedullary and extramedullary relapse resulted in ineffective treatment and death.Conclusion The types of BCR∷ABL1 transcript,the order in which BCR∷ABL1 and CBFB∷MYH11 were detected and the complex karyotype category are conducive to the differential diagnosis of myeloid leukemia with co-expression of BCR∷ABL1 and CBFB∷MYH11 fusion genes.As for differential diagnosis of myeloid leukemia with co-expression of BCR∷ABL1 and CBFB∷MYH11 fusion genes,more clinical case reports and laboratory tests are needed to explore in the future.

关 键 词：BCR∷ABL1 CBFB∷MYH11 慢性粒细胞白血病 急性髓系白血病 鉴别诊断 

分 类 号：R773[医药卫生—眼科]