Department of Laboratory Medicine, West China Hospital, Sichuan University, 610041 Chengdu, Sichuan Province, People's Republic of China.
Mol Biol Rep. 2011 Jun;38(5):3101-5. doi: 10.1007/s11033-010-9979-3. Epub 2010 Feb 2.
The BCR-ABL fusion gene in chromosome translocation, t (9; 22), and its product, p210BCR/ABL oncogenic tyrosine kinase, is the underlying molecular mechanism that leads to the development of CML. Quantitative detection of BCR-ABL fusion gene has become a reliable approach to diagnose and monitor CML. The aim of this study was to evaluate a Roche t (9; 22) kit in CML diagnosis, monitoring treatment responses, and identification of relapse. Using BCR-ABL fusion gene-expressing K562 cells, a series of standard samples were prepared and used to establish a curve for the calculation of BCR-ABL fusion gene expression in patient samples. Our results indicate that PCR detection system with aforementioned kit has good reproducibility. In addition, the relative concentration of BCR-ABL measured by PCR was in agreement with the patient's response to the Imatinib treatment and bone marrow morphology remission. Furthermore, we found that the relative concentration of BCR-ABL fusion gene increased 1-3 months before CML relapse was clinically and cytogenetically diagnosed, suggesting that the PCR-based BCR-ABL fusion gene detection with t (9; 22) kit is able to diagnose the recurrence of CML at least 1 month earlier than the classic cytogenetic analysis. In conclusion, detection of BCR-ABL fusion gene expression in CML using Roche t (9; 22) kit has great clinical value in the primary diagnosis, monitoring treatment responses, and identification of relapse in CML patients.
染色体易位 t(9;22)中的 BCR-ABL 融合基因及其产物 p210BCR/ABL 致癌酪氨酸激酶是导致 CML 发生的潜在分子机制。定量检测 BCR-ABL 融合基因已成为诊断和监测 CML 的可靠方法。本研究旨在评价罗氏 t(9;22)试剂盒在 CML 诊断、监测治疗反应和复发鉴定中的应用。我们使用 BCR-ABL 融合基因表达的 K562 细胞制备了一系列标准样本，建立了用于计算患者样本中 BCR-ABL 融合基因表达的曲线。结果表明，该试剂盒的 PCR 检测系统具有良好的可重复性。此外，PCR 测量的 BCR-ABL 相对浓度与患者对伊马替尼治疗和骨髓形态学缓解的反应一致。此外，我们发现 CML 复发的临床和细胞遗传学诊断前 1-3 个月，BCR-ABL 融合基因的相对浓度增加，提示基于 PCR 的 t(9;22)试剂盒检测 BCR-ABL 融合基因能够在经典细胞遗传学分析之前至少提前 1 个月诊断 CML 的复发。总之，罗氏 t(9;22)试剂盒检测 CML 中 BCR-ABL 融合基因表达具有重要的临床价值，可用于 CML 患者的初诊、监测治疗反应和复发鉴定。
