Human Molecular Genetics Research Centre, Department of Genetics, New University of Lisbon, Lisbon, Portugal.
Oncol Rep. 2013 Feb;29(2):741-50. doi: 10.3892/or.2012.2153. Epub 2012 Nov 28.
Despite the success of imatinib mesylate (IM) in the treatment of chronic myeloid leukemia (CML), approximately 30% of patients are resistant to therapy, mostly due to unknown causes. To profile the expression signatures of drug transporters throughout IM therapy and correlate them with resistance, we quantified mRNA expression levels of the SLC22A12, ABCB1, ABCC1, ABCG2 and MVP genes in consecutive samples from peripheral blood or bone marrow of CML patients who were either responsive or resistant to IM. Additionally we identified and quantified BCR-ABL1 transcript variants and analyzed 1236T>C ABCB1 and 480G>C SLC22A1 polymorphisms. A relationship between the type of BCR-ABL1 transcript or ABCB1 or SLC22A1 genotype and response to treatment was not discovered. However, the studied genes had higher expression levels in follow-up compared to the diagnostic samples, demonstrating a possible induction in expression. IM-sensitive patients presented significantly higher values of SLC22A1 expression, suggesting higher drug influx. Most importantly, while responding patients demonstrated stable expression signatures in consecutive samples, there was considerable variation in IM-resistant patients, indicating that single point sampling expression signatures are not reliable in predicting clinical outcomes or prognostic features in these patients. Studies that assessed consecutive samples from CML patients in order to evaluate the variation in expression levels of transporter genes are limited yet our study emphasizes the importance of such approaches.
尽管甲磺酸伊马替尼 (IM) 在治疗慢性髓性白血病 (CML) 方面取得了成功,但约 30%的患者对治疗产生耐药,这主要是由于未知原因。为了描绘 IM 治疗过程中药物转运蛋白的表达特征,并将其与耐药性相关联,我们定量检测了对 IM 有反应或耐药的 CML 患者外周血或骨髓连续样本中 SLC22A12、ABCB1、ABCC1、ABCG2 和 MVP 基因的 mRNA 表达水平。此外,我们还鉴定和定量了 BCR-ABL1 转录变体,并分析了 1236T>C ABCB1 和 480G>C SLC22A1 多态性。未发现 BCR-ABL1 转录本或 ABCB1 或 SLC22A1 基因型与治疗反应之间的关系。然而,与诊断样本相比,研究基因在随访样本中的表达水平更高,表明表达可能被诱导。对 IM 敏感的患者 SLC22A1 表达水平显著更高,表明药物摄取量更高。最重要的是,虽然反应良好的患者在连续样本中表现出稳定的表达特征,但对 IM 耐药的患者存在相当大的变化,表明单点采样的表达特征在预测这些患者的临床结果或预后特征方面不可靠。评估 CML 患者连续样本以评估转运蛋白基因表达水平变化的研究有限,但我们的研究强调了此类方法的重要性。