Objective: To establish a new digital polymerase chain reaction (dPCR) system for the detection of BCR-ABL fusion gene in patients with chronic myeloid leukemia (CML), and explore its analytical performance and clinical applicability in the detection of BCR-ABLp190/210/230.
Methods: A new dPCR system for detecting BCR-ABLp190/210/230 was successfully developed, and its sensitivity difference with qPCR and improvement of drug side effects in patients with CML during drug reduction or withdrawal were compared.
Results: Among 176 samples, qPCR and dPCR showed high consistency in the sensitivity of detecting BCR-ABL (82.39%), and the positive rate of dPCR was about 5 times higher that of qPCR (20.45% vs 3.98%). During follow-up, blood routine (25% vs 10%), kidney/liver/stomach (25% vs 20%) and cardiac function (10% vs 0) were significantly improved after drug reduction or withdrawal in patients with initial dPCR negative compared with before drug reduction or withdrawal.
Conclusions: This new dPCR detection system can be applied to the detection of BCR-ABLp190/210/230. It has better consistency and higher positive detection rate than qPCR. Drug withdrawal or dose reduction guided by dPCR has a certain effect on improving drug side effects.
题目: 新型数字PCR对慢性粒细胞白血病BCR-ABL融合基因的检测效果研究.
目的: 针对慢性粒细胞白血病建立用于BCR-ABL融合基因检测的新型dPCR体系，探讨其在BCR-ABLp190/210/230检测中的分析性能和临床适用性。.
方法: 开发检测BCR-ABLp190/210/230的新型dPCR体系，比较其与qPCR的灵敏度差异，及在慢性粒细胞白血病患者减药或停药期间药物副作用改善的差异。.
结果: 在176份样本中，qPCR和dPCR在检测BCR-ABL的灵敏度方面表现出较高的一致性（82.39%），dPCR的阳性率约为qPCR的5倍（20.45% vs 3.98%）。随访期间，减药或停药的初始dPCR阴性患者较减药或停药前血常规（25% vs 10%）、肾/肝/胃（25% vs 20%）及心脏功能（10% vs 0）均有明显改善。.
结论: dPCR检测体系可应用于BCR-ABLp190/210/230检测，较qPCR一致性佳，阳性检出率高，基于dPCR指导的停药或减少剂量在改善药物副作用上有一定效果。.
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