Co-expression of BCR∷ABL1 and CBFB∷MYH11 fusion genes in myeloid leukemia: three cases report and literature review
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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。
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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
Abstract: 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.-
Key words:
- BCR∷ABL1 /
- CBFB∷MYH11 /
- chronic myeloid leukemia /
- acute myeloid leukemia /
- differential diagonsis
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表 1 3例BCR∷ABL1和CBFB∷MYH11融合基因双表达患者的临床资料
病例 年龄/岁 诊断 白细胞/(×109/L) 血小板/(×109/L) 血红蛋白/(g·/L) BCR∷ ABL1融合基因转录本 ABL1激酶区突变 BCR∷ABL1和CBFB∷MYH11融合基因双表达时核型 BCR∷ ABL1和CBFB∷ MYH11出现顺序 治疗 结局(自检测到BCR∷ABL1和CBFB∷MYH11融合基因双表达至随访结束) 1 35 CML-CP → CML-BP 70.6 6 61 P210 阴性 46，XX，t(9；22) (q34；q11)？inv (16)[1]/46，idem，add(1)(p36)[4]/47，idem，+8[5] — Ima，Nilo，Dec+AAG，Dec，allo-HSCT 死亡
(19个月)2 40 AML 78.3 147 126 P190 阴性 46，XY，t(9；22) (q34；q11.2)?inv (16)(p13；q22)[2] A Flumatinib+ FLAG，HSCT 存活
(17个月)3 51 CML-BP 15.3 20 62 P210 阳性 46，XY，t(9；22) (q34；q11.2)[4]/46，idem，inv(16) (p13；q22)[6] A HHT，Acl，Dec，Nilo，HSCT 死亡
(10个月)—：无法获得；A：BCR∷ABL1和CBFB∷MYH11在初始诊断中同时检测到；Ima：伊马替尼；Nilo：尼洛替尼；Dec：地西他滨；AAG：阿糖胞苷，阿克拉霉素，重组人粒细胞刺激因子；allo-HSCT：异基因造血干细胞移植；Flumatinib：氟马替尼；FLAG：氟达拉滨，阿糖胞苷，重组人粒细胞刺激因子；HHT：高三尖杉酯碱；Acl：阿柔比星。 
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