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

Detection of BCR-ABL Fusion Gene in Chronic Myeloid Leukemia by Novel Digital PCR

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d PCR体系,探讨其在BCR-ABL^(p190/210/230)检测中的分析性能和临床适用性。方法:开发检测BCR-ABL^(p190/210/230)的新型d PCR体系,比较其与q PCR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,q PCR和d PCR在检测BCR-ABL的灵敏度方面表现出较高的一致性(82.39%),d PCR的阳性率约为q PCR的5倍(20.45%vs 3.98%)。随访期间,减药或停药的初始d PCR阴性患者较减药或停药前血常规(25%vs 10%)、肾/肝/胃(25%vs20%)及心脏功能(10%vs 0)均有明显改善。结论:d PCR检测体系可应用于BCR-ABL^(p190/210/230)检测,较q PCR一致性佳,阳性检出率高,基于d PCR指导的停药或减少剂量在改善药物副作用上有一定效果。

Objective:To establish a new digital polymerase chain reaction (d PCR) 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-ABL~(p190/210/230).Methods:A new d PCR system for detecting BCR-ABL~(p190/210/230) was successfully developed,and its sensitivity difference with q PCR and improvement of drug side effects in patients with CML during drug reduction or withdrawal were compared.Results:Among 176 samples,q PCR and d PCR showed high consistency in the sensitivity of detecting BCR-ABL (82.39%),and the positive rate of d PCR was about 5 times higher that of q PCR (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 d PCR negative compared with before drug reduction or withdrawal.Conclusions:This new d PCR detection system can be applied to the detection of BCR-ABL~(p190/210/230).It has better consistency and higher positive detection rate than q PCR.Drug withdrawal or dose reduction guided by dPCR has a certain effect on improving drug side effects.