[甲磺酸伊马替尼治疗慢性粒细胞白血病患者残留病的监测:检测BCR/ABL基因ATP结合位点的T315I突变]

[The monitoring of residual disease for chronic myelogenous leukemia patients treated with imatinib mesylate: detection of T315I mutation in ATP binding site of BCR/ABL gene].

作者信息

Miyanishi Setsuko, Umeki Kazumi, Hayashi Takamasa, Fukutsuka Katsuhiro, Okumura Atsuko, Kishimori Chiyuki

机构信息

Tenri Institute of Medical Research, Tenri 632-8552.

出版信息

Rinsho Byori. 2003 Oct;51(10):1023-9.

DOI:
Abstract

Imatinib Mesylate, a specific inhibitor of BCR/ABL tyrosine kinase, was developed as a molecularly targeted drug for the treatment of patients with chronic myelogenous leukemia. We evaluated effectiveness of the drug on cytogenetic response for monitoring residual disease using fluorescence in situ hybridization(FISH), reverse transcription-nested-polymerase chain reaction(RT-nested-PCR) and competitive PCR strategy. Of 9 patients in chronic phase, 7 achieved major cytogenetic response(CR) and 2 achieved minor CR by FISH. In 3 out of 6 patients with complete CR, no BCR/ABL gene was detected by RT-nested-PCR in peripheral blood or bone marrow specimens. Of 4 patients in accelerated phase, 1 achieved complete CR but 3 developed blast crisis. Despite high efficacy of Imatinib, 5 out of 13 patients showed resistance to the drug. To clarify the mechanism of resistance, we have newly developed a method for investigating a point mutation of T315I in tyrosine kinase domain of BCR/ABL gene using RT-PCR restriction digested analysis. None of them showed T315I mutation. The sensitivity of the method was as low as 10 copies of mutant gene. The method is useful for screening the mutation when there are many clinical samples or low copy number of BCR/ABL gene. BCR/ABL value obtained by FISH was of use to predict cytogenetic response when residual disease was above 2 to 3%. Below this level, the routine use of RT-nested-PCR was suffices to monitor minimal residual disease.

摘要

甲磺酸伊马替尼是一种BCR/ABL酪氨酸激酶的特异性抑制剂,作为一种分子靶向药物被开发用于治疗慢性粒细胞白血病患者。我们使用荧光原位杂交(FISH)、逆转录巢式聚合酶链反应(RT-巢式PCR)和竞争性PCR策略评估了该药物对监测残留疾病的细胞遗传学反应的有效性。在9例慢性期患者中,7例通过FISH达到主要细胞遗传学缓解(CR),2例达到次要CR。在6例完全CR的患者中,有3例在外周血或骨髓标本中通过RT-巢式PCR未检测到BCR/ABL基因。在4例加速期患者中,1例达到完全CR,但3例发生急变期。尽管伊马替尼疗效高,但13例患者中有5例对该药物耐药。为了阐明耐药机制,我们新开发了一种利用RT-PCR限制性消化分析研究BCR/ABL基因酪氨酸激酶结构域T315I点突变的方法。他们均未显示T315I突变。该方法的灵敏度低至10个突变基因拷贝。当有许多临床样本或BCR/ABL基因拷贝数低时,该方法可用于筛选突变。当残留疾病高于2%至3%时,通过FISH获得的BCR/ABL值可用于预测细胞遗传学反应。低于此水平,常规使用RT-巢式PCR足以监测微小残留疾病。

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