Zou Yuan, DU Cui, Chen Hong-Mei, Guo Fu-Xiao, Cheng Jian-Bing, Tang Yuan-Yan, Wu Wei, Xia Cheng-Qing
Molecular Pathology Laboratory, Hangzhou ADICON Clinical Laboratories, INC., Hangzhou 310030, Zhejiang Province, China.
Molecular Pathology Laboratory, Hangzhou ADICON Clinical Laboratories, INC., Hangzhou 310030, Zhejiang Province, China. E-mail:
Zhongguo Shi Yan Xue Ye Xue Za Zhi. 2017 Aug;25(4):1016-1021. doi: 10.7534/j.issn.1009-2137.2017.04.010.
To detect atypical BCR/ABL mRNA transcript by real-time quantitative PCR in CML patients without e13a2/e14a2,e19a2 or e1a2 transcripts, and investigate its value of clinical application.
Twelve cases of CML with positive for t(9;22) translocation, but negative for common major and minor breakpoint cluster regions comfirmed by chromosome karyotyping or FISH analysis, were collected from July 2012 to December 2015. These 12 cases were then detected for b2a3(e13a3), b3a3(e14a3), e6a2, e8a2 and e1a3 fusion variants by real-time quantitative PCR.
Among 12 cases 4 variant transcripts were detected, including e1a3 in 1 case (8.33%), e8a2 in 2 cases (16.67%), b2a3 in 5 cases (41.67%) and b3a3 in 4 cases (33.33%), with total positivity of 100%, moreover b2a3 and b3a3 were predominant.
The detecting atypical BCR/ABL mRNA transcripts by real-time quantitative PCR is suitable for the diagnosis of CML negative for P210, P190 and P230 by standard real-time PCR test, and this detection is still the standard and economic method for monitoring minimal residual disease in CML patients with variants of BCR/ABL fusion gene.
通过实时定量聚合酶链反应（PCR）检测慢性髓性白血病（CML）患者中无e13a2/e14a2、e19a2或e1a2转录本的非典型BCR/ABL mRNA转录本，并探讨其临床应用价值。
收集2012年7月至2015年12月期间12例t(9;22)易位阳性，但经染色体核型分析或荧光原位杂交（FISH）分析确认常见主要和次要断裂点簇区域阴性的CML患者。然后通过实时定量PCR检测这12例患者的b2a3（e13a3）、b3a3（e14a3）、e6a2、e8a2和e1a3融合变体。
12例患者中检测到4种变体转录本，其中e1a3 1例（8.33%），e8a2 2例（16.67%），b2a3 5例（41.67%），b3a3 4例（33.33%），总阳性率为100%，且以b2a3和b3a3为主。
通过实时定量PCR检测非典型BCR/ABL mRNA转录本适用于标准实时PCR检测P210、P190和P230阴性的CML诊断，并且该检测仍是监测BCR/ABL融合基因变体的CML患者微小残留病的标准且经济的方法。
