BCR-ABL1p210阳性伴inv(9)的急性T淋巴细胞白血病1例并文献复习  

BCR-ABL1p210 positive acute T lymphocytic leukemia with inv(9):a case report and review of literature

作　　者：邓仕姚 李晓明 钱怡 DENG Shi-yao;LI Xiao-ming;QIAN Yi(Department of Hematopathology,Affiliated Hospital of Southwest Medical University,Luzhou,Sichuan 646000,China)

机构地区：[1]西南医科大学附属医院血液内科,四川泸州646000

出　　处：《中国临床研究》2022年第4期539-542,共4页Chinese Journal of Clinical Research

摘　　要：目的总结1例BCR-ABL1p210阳性伴9号染色体臂间倒位[inv(9)]的急性T淋巴细胞白血病(T-ALL)的临床及细胞遗传学特征。方法对2020年3月收治的1例成人T-ALL患者进行染色体核型分析,流式细胞学检测免疫表型,进行融合基因RT-PCR扩增。结果患者主诉全身多骨骼疼痛1月,血象异常1 d来诊,入院后通过系列检查确诊T-ALL。融合基因检测示:BCR-ABL1p210阳性[t(9;22)(q34;q11)];染色体核型分析示:46XY,t(5;22)(p15.1;q12),inv(9)(p12q13)c。予以VP方案化疗,长春地辛第1次用药后拒绝继续治疗而出院,出院3 d后死亡。结论BCR-ABL1p210阳性伴inv(9)也可发生于T-ALL,该病例还包括如下特征:老年男性,高白细胞,乳酸脱氢酶升高,多发淋巴结肿大,肝脾肿大,免疫表型发现跨系表达B系及髓系标志。Objective To summarize the clinical features and cytogenetics of a case of BCR-ABL1p210-positive acute T lymphocytic leukemia(T-ALL)with pericentric inversion of chromosome 9[inv(9)].Methods Chromosome karyotype analysis,flow cytometry detection of immunophenotype,and multiplex RT-PCR amplification of fusion gene were performed in an adult T-ALL patient admitted in March 2020.Results The patient complained of systemic poly skeletal pain for 1 month and abnormal hemogram for 1 day,and was diagnosed with T-ALL through a series of examinations after admission.Fusion gene detection showed:BCR-ABL1p210 positive[t(9;22)(q34;q11)];Karyotype analysis showed:46XY,t(5;22)(p15.1;q12),inv(9)(p12q13)c.VP regimen chemotherapy was given,and the patient was discharged due to refusing to continue treatment after the first administration of vindesine,and died 3 days after discharge.Conclusion BCR-ABL1p210 positive with inv(9)can also occur in acute T-ALL.This case also includes the following features:elderly men,high leucocyte,elevated lactate dehydrogenase,multiple lymph node enlargement,hepatosplenomegaly,and cross-lineage expression of B-line and myeloid markers found in immunophenotypes.

关 键 词：T淋巴细胞 白血病 核型分析 9号染色体臂间倒位 BCR-ABL1p210 融合基因 

分 类 号：R733.71[医药卫生—肿瘤]