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罕见e1a3型BCR-ABL融合基因阳性的急性淋巴细胞白血病2例并文献复习
Acute lymphoblastic leukemia with e1A3 BCR-ABL fusion protein: report of 2 cases and literature review
- 第三军医大学学报 2021年43卷第19期 页码：1909-1912
- 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：
[王平, E-mail: wpii_2002@sina.com WANG Ping, E-mail: wpii_2002@sina.com
- 基金信息：重庆市社会事业与民生保障科技创新专项(CSTC2017shmsA130003);重庆市科卫联合医学科研项目(2021MSXM140)
DOI：10.16016/j.1000-5404.202103215
中图分类号： R733.71收稿：2021-03-25，
修回：2021-06-04，
纸质出版：2021-10-15
- 稿件说明：
移动端阅览
陈思宇, 邓小娟, 张雨薇, 等. 罕见e1a3型BCR-ABL融合基因阳性的急性淋巴细胞白血病2例并文献复习[J]. 第三军医大学学报, 2021,43(19):1909-1912.
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.
陈思宇, 邓小娟, 张雨薇, 等. 罕见e1a3型BCR-ABL融合基因阳性的急性淋巴细胞白血病2例并文献复习[J]. 第三军医大学学报, 2021,43(19):1909-1912. DOI： 10.16016/j.1000-5404.202103215.
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
2
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
2
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
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
2
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
2
To investigate the laboratory and clinical characteristics of acute lymphoblastic leukemia (ALL) with e1a3 BCR-ABL fusion protein.
Methods
2
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
2
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
2
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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