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Received:August 18, 2021 Published Online:April 20, 2022
Received:August 18, 2021 Published Online:April 20, 2022
中文摘要: 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。
中文关键词: 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
Abstract: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.
keywords: T lymphocyte Leukemia Karyotype analysis Pericentric inversion of chromosome BCR-ABL1p210, fusion gene
文章编号: 中图分类号:R733.71 文献标志码:B
基金项目:
Author Name | Affiliation |
DENG Shi-yao, LI Xiao-ming, QIAN Yi | Department of Hematopathology, Affiliated Hospital of Southwest Medical University, Luzhou, Sichuan 646000, China |
Author Name | Affiliation |
DENG Shi-yao, LI Xiao-ming, QIAN Yi | Department of Hematopathology, Affiliated Hospital of Southwest Medical University, Luzhou, Sichuan 646000, China |
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