成人急性T淋巴细胞白血病伴t(1;19)(q23;p13)及E2A-PBX1：1例报告并文献复习

[Acute T cells lymphoblastic leukemia with a t(1;19)(q23;p13) and E2A-PBX1 in an adult: one case report and literature review].

作者信息

He Guang-Sheng, Zhang Xu-Hui, Yao Li, Zhang Ri, Chen Zi-Xing, Wu De-Pei, Sun Ai-Ning, Jin Zheng-Ming, Qiu Hui-Ying, Hu Xiao-Hui

机构信息

The First Affiliated Hospital of Soochow University, Jiangsu Insititute of Hematology, Key Laboratory of Thrombosis and Hemostasis, Ministry of Health, Suzhou 215006, China.

出版信息

Zhonghua Xue Ye Xue Za Zhi. 2009 Oct;30(10):675-7.

PMID:19954663

Abstract

OBJECTIVE

To report a case of T cell acute lymphoblastic leukemia (ALL) with t(1;19)(q23;pl3) and E2A-PBX1 fusion gene, which is a characteristic translocation of childhood B cell ALL (B-ALL).

METHODS

The chromosome, karyotype, immunophenotype and mRNA for fusion gene of the leukemic cells were examined by cytogenetic analysis, flow cytometry (FCM) and reverse transcriptase PCR (RT-PCR), respectively.

RESULTS

The cytogenetic karyotype of the patient was 47, XY, 9p+, 15p+, 17q-, der(19), t(1;19)(q23;pl3)[5]/46, XY[15], and E2A-PBX1 was positive. The leukemic cells expressed T cell markers. The patient was induced with hyper CVAD regimen (cyclophosphamide, vincristine, adriamycin, and dexamethasone), and achieved complete remission with normal cytogenetic karyotype 46 XY[10], and negative E2A-PBX1.

CONCLUSION

t(1;19)E2A-PBX1(+) can be implicated in adult T-ALL, besides childhood B-ALL.

摘要

目的

报告1例伴有t(1;19)(q23;p13)和E2A-PBX1融合基因的T细胞急性淋巴细胞白血病（ALL），该融合基因是儿童B细胞ALL（B-ALL）的特征性易位。

方法

分别采用细胞遗传学分析、流式细胞术（FCM）和逆转录聚合酶链反应（RT-PCR）检测白血病细胞的染色体、核型、免疫表型及融合基因的mRNA。

结果

患者的细胞遗传学核型为47,XY,9p+,15p+,17q-,der(19),t(1;19)(q23;p13)[5]/46,XY[15]，E2A-PBX1呈阳性。白血病细胞表达T细胞标志物。患者接受Hyper CVAD方案（环磷酰胺、长春新碱、阿霉素和地塞米松）诱导治疗，达到完全缓解，细胞遗传学核型为正常的46 XY[10]，E2A-PBX1阴性。