Acute lymphoblastic leukemia with e1A3 BCR-ABL fusion protein: report of 2 cases and literature review

Siyu CHEN; Xiaojuan DENG; Yuwei ZHANG; Yang GOU; Xi ZHANG; Xiangui PENG; Ping WANG

doi:10.16016/j.1000-5404.202103215

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Acute lymphoblastic leukemia with e1A3 BCR-ABL fusion protein: report of 2 cases and literature review

Clinical Medicine | 更新时间：2026-01-09

- Acute lymphoblastic leukemia with e1A3 BCR-ABL fusion protein: report of 2 cases and literature review
- Journal of Third Military Medical University Vol. 43, Issue 19, Pages: 1909-1912(2021)
- 作者机构：
  
  400037 重庆，陆军军医大学(第三军医大学)第二附属医院血液病医学中心，全军血液病中心
- 作者简介：
- 基金信息：
  
  the Special Project of Science and Technology Innovation of Social Undertakings and People ' s Livelihood Security in Chongqing(CSTC2017shmsA130003);the Joint Project of Medical Scientific Research of Chongqing Science and Technology Commission and Chongqing Health Commission(2021MSXM140)
- DOI：10.16016/j.1000-5404.202103215
  CLC： R733.71
- Received：25 March 2021，
  
  Revised：2021-06-04，
  
  Published：15 October 2021
- 稿件说明：
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Siyu CHEN, Xiaojuan DENG, Yuwei ZHANG, et al. Acute lymphoblastic leukemia with e1A3 BCR-ABL fusion protein: report of 2 cases and literature review[J]. Journal of Third Military Medical University, 2021, 43(19): 1909-1912.
DOI：

Siyu CHEN, Xiaojuan DENG, Yuwei ZHANG, et al. Acute lymphoblastic leukemia with e1A3 BCR-ABL fusion protein: report of 2 cases and literature review[J]. Journal of Third Military Medical University, 2021, 43(19): 1909-1912. DOI： 10.16016/j.1000-5404.202103215.

摘要

目的

探讨e1a3型BCR-ABL融合基因阳性的急性淋巴细胞白血病(acute lymphocytic leukemia，ALL)的实验室特征和临床特点。

方法

分析2例e1a3型BCR-ABL融合基因阳性ALL患者的临床资料及骨髓细胞学、流式免疫分型、染色体核型、荧光原位杂交术及实时荧光定量PCR结果，并结合文献复习。

结果

2例病例均符合ALL表型，FISH检测示BCR-ABL阳性，RQ-PCR(p190、p210、p230)呈阴性，最后增加罕见型BCR-ABL融合基因检测而诊断为罕见e1a3型BCR-ABL融合基因阳性ALL

1例患者接受酪氨酸激酶抑制剂(tyrosine kinase inhibitions

TKI)治疗，持续完全缓解4月余；另1例患者未接受TKI治疗，诊断1月余后死亡。

结论

融合基因多技术联检有助于发现和确诊e1a3型BCR-ABL融合基因阳性ALL，TKI治疗有助于改善预后。

Abstract

Objective

To investigate the laboratory and clinical characteristics of acute lymphoblastic leukemia (ALL) with e1a3 BCR-ABL fusion protein.

Methods

The clinical data

and results of bone marrow cytology

flow cytometry

karyotyping

fluorescence

in situ

hybridization (FISH) and real-time fluorescence quantitative PCR of 2 ALL cases with e1a3 BCR-ABL fusion protein admitted in our department were collected and analyzed. The related literature was reviewed.

Results

Both cases presented ALL phenotype. FISH test showed BCR-ABL positive

and RQ-PCR (p190

p210

p230) negative. Finally

the rare BCR-ABL fusion gene test was added and the 2 patients were diagnosed as rare e1a3 BCR-ABL positive ALL. One patient received TKI treatment and had achieved complete remission for more than 4 months. Another patient did not receive TKI and died in longer than 1 month after diagnosis.

Conclusion

Multi-technique joint detection for fusion gene is helpful for the detection and diagnosis of ALL with e1a3 BCR-ABL fusion protein

and TKI therapy is helpful to improve the prognosis.

关键词

Keywords

references

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