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.
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
李正
孙爱宁
薛胜利
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)
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)。
