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[EP300-ZNF384融合基因阳性急性B淋巴细胞白血病的临床特征分析]

[Analysis of Clinical Characteristics of Acute B Lymphoblastic Leukemia with EP300-ZNF384 Fusion Gene Positive].

作者信息

Yao Zi-Long, Li Yan-Fen, Li Meng, Li Yan, Li Wen-Jun, Li Hong-Hua, Liu Yang-Yang, Lin Shao-Hang, Li Fu-Wei, Zhang Juan, Jing Yu

机构信息

Department of Hematology, The First Medical Center of Chinese PLA General Hospital, Beijing 100853, China.

Beijing USCI Medical Laboratory, Beijing 100195, China.

出版信息

Zhongguo Shi Yan Xue Ye Xue Za Zhi. 2020 Feb;28(1):24-28. doi: 10.19746/j.cnki.issn.1009-2137.2020.01.005.

Abstract

OBJECTIVE

To investigate the clinical manifestations and laboratory features of B-ALL patients with EP300-ZNF384 fusion gene positive, so as to improve the understanding of this subtype disease.

METHODS

The clinical data of 3 B-ALL patients with EP300-ZNF384 fusion gene positive admitted in Department of Hematology, the first medical center of Chinese PLA general hospital from February 2017 to February 2018 were collected and analyzed retrospectively. The clinical and laboratory characteristics as well as the therapentic outcome in B-ALL patients with EP300-ZNF384 fusion gene positive were analyzed.

RESULTS

The fusion gene of EP300-ZNF384 was detected in 8.1%(3/37) of B-ALL patients. All cases showed the normal karyotype and aberrant CD13 and/or CD33 expression for immunophenotype. 3 patients were sensitive to traditional chemotherapy.

CONCLUSION

The B-ALL with EEP300-ZNF384 fusion gene positive may be a subgroup of B-ALL with a uniqe clinical characteristis and laboatorial features. EP300-ZNF384 positive patients show a good response to conventional chemotherapy, suggesting a favorable prognosis.

摘要

目的

探讨EP300-ZNF384融合基因阳性的B-ALL患者的临床表现及实验室特征,以提高对该亚型疾病的认识。

方法

回顾性收集并分析2017年2月至2018年2月解放军总医院第一医学中心血液科收治的3例EP300-ZNF384融合基因阳性的B-ALL患者的临床资料,分析EP300-ZNF384融合基因阳性的B-ALL患者的临床及实验室特征以及治疗转归。

结果

在B-ALL患者中,8.1%(3/37)检测到EP300-ZNF384融合基因。所有病例核型均正常,免疫表型显示CD13和/或CD33表达异常。3例患者对传统化疗敏感。

结论

EP300-ZNF384融合基因阳性的B-ALL可能是B-ALL的一个具有独特临床特征和实验室特征的亚组。EP300-ZNF384阳性患者对传统化疗反应良好,提示预后良好。

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