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[一名对治疗耐药的秘鲁急性淋巴细胞白血病患者的BCR-ABL1基因突变情况]

[Mutations in the BCR-ABL1 gene in a peruvian patient with acute lymphoblastic leukemia resistant to therapy].

作者信息

Ortiz Cesar A, Alvarez Yubell P, Dongo-Pflucker Kenny L, Valdivia Emilio, Mendoza Fernández Julio, Dávila Silvia, Mora-Alférez Pamela

机构信息

Laboratorio de Biología Molecular. Instituto Nacional de Enfermedades Neoplásicas. Lima, Perú.

出版信息

Rev Fac Cien Med Univ Nac Cordoba. 2017;74(2):162-166.

Abstract

CONTEXT

The fusion gene BCR-ABL1 is present in at least the fourth part of B-cell acute lymphoblastic leukemia adult cases. Patients with this fusion gene are candidates to tyrosine kinase inhibitors treatment, and the response to this therapy can be measure by quantification of BCR-ABL1 transcripts. Some patients relapse because the presence of mutations in the tyrosine kinase domain of BCR-ABL1.

CASE REPORT

This is a report of a patient with BCR-ABL1 who initially achieved molecular response with imatinib therapy, relapsing after fifteen months. The treatment was changed to dasatinib, but the patient doesn't achieve molecular response. Retrospectively, we analyzed the tyrosine kinase domain of BCR-ABL1 and we found three mutations (E459K, E255K and V299L).

CONCLUSIONS

We conclude that gain of mutations during treatment with TKIs has strong impact in the progress of disease, being relevant the detection of BCR-ABL1 mutations in relapsed patients or in case of BCR-ABL1 persistence.

摘要

背景

融合基因BCR-ABL1至少存在于成人B细胞急性淋巴细胞白血病病例的第四部分。携带这种融合基因的患者是酪氨酸激酶抑制剂治疗的候选对象,对该疗法的反应可通过定量BCR-ABL1转录本来衡量。一些患者会复发,原因是BCR-ABL1酪氨酸激酶结构域存在突变。

病例报告

这是一份关于一名携带BCR-ABL1的患者的报告,该患者最初接受伊马替尼治疗时达到分子学缓解,但在15个月后复发。治疗改为达沙替尼,但患者未达到分子学缓解。回顾性分析中,我们对BCR-ABL1的酪氨酸激酶结构域进行了分析,发现了三个突变(E459K、E255K和V299L)。

结论

我们得出结论,在使用酪氨酸激酶抑制剂治疗期间发生的突变对疾病进展有很大影响,因此在复发患者或BCR-ABL1持续存在的情况下检测BCR-ABL1突变具有重要意义。

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