应用多重巢式RT-PCR检测骨髓增生异常综合征中MLL基因相关的10种融合基因

Application of Multiplex Nested RT-PCR to Detecting 10 Fusion Genes Ralated with MLL Gene in Myelodysplastic Syndrome

本研究探讨应用多重巢式逆转录聚合酶链反应(RT-PCR)检测骨髓增生异常综合征MDS)患者MLL基因相关的融合基因的临床价值。采用多重巢式RT-PCR方法检测了221例MDS患者10种MLL基因相关融合基因(dupMLL、MLL-ELL、MLL-ENL、MLL-AF6、MLL-AF9、MLL-AF10、MLL-AF17、MLL-CBP、MLL-AF1P、MLL-AF1Q)。结果表明:在221例MDS患者中检测出以上融合基因者20例(9.05%),以上10种基因的阳性例数及阳性率分别依次为7(3.16%)、2(0.9%)、1(0.45%)、1(0.45%)、2(0.9%)、2(0.9%)、1(0.45%)、2(0.9%)、1(0.45%)、1(10.45%)。结论:多重巢式RT-PCR技术能同时检测MDS患者中的10种融合基因,可作为MDS诊断及疗效判定的重要依据,同时也为微小残留病(MRD)及预后提供相关的重要信息。

This study was aimed to investigate the clinical value of multiplex nested reverse transcription PCR （ RT- PCR） in detecting MLL-related fusion genes in myelodysplastic syndrome （MDS）. Ten MLL-related genes （dupMLL, MLL-ELL, MLL-ENL, MLL-AF6, MLL-AFg, MLL-AF10, MLL-AF17, MLL-CBP, MLL-AFIP, MLL-AFI Q ） in 221 MDS cases were detected by multiplex nested RT-PCR. The results indicated that 20 patients were detected with positive result among 221 patients and the positive rate was 9.05%. The number of the positive cases and positive rates of the above mentioned 10 fusion genes were in order： 7 （ 3.16 % ）, 2 （ 0.9 % ）, 1 （0.45 % ）, 1 （ 0.45 % ）, 2 （ 0.9 % ）, 2 （0.9 % ）, 1 （0.45 % ） ,2 （0.9 % ）, 1 （0.45 % ）, 1 （ 10.45 % ）. It is concluded that the multiplex nested RT-PCR has been confirmed to be able to detect 10 fusion genes in MDS patients, which can provide important evidences for assessing diagnosis and treatment, and give related necessary information about minimal residual disease and its prognosis.