CAJ | 학술논문

目的探讨荧光原位杂交( FISH)技术和多重巢式RT-PCR技术对急性白血病(AL)患者混合谱系白血病( MLL)基因重排检测的价值.方法采用MLL双色FISH基因探针,应用间期FISH和多重巢式RT-PCR技术对189例AL患者进行检测,同时进行染色体R或G显带.结果 179例AL患者行FISH检测,其中9例(5.03％)MLL基因重排阳性[无MLL-部分串联重复(PTD)],而经多重巢式RT-PCR检测的189例中16例(8.47％)MLL基因重排阳性,包括MLL/AF9、MLL/AF10、MLL/AF6、MLL/AF17、MLL/ELL、MLL-PTD,189例患者同时进行染色体R或G显带,其中仅5例(2.65％)涉及11q23的相互易位.急性淋巴细胞白血病(ALL)(73例)与急性髓系白血病(AML)(116例)中6种常见MLL基因重排的发生率差异均无统计学意义(均P＞ 0.05).结论多重巢式RT-PCR技术是对初诊AL患者进行MLL基因重排筛检的有效方法,不仅能证实常规细胞遗传学易位,还能检测出染色体核型分析和FISH技术均不能检出的MLL-PTD,为预后判断和治疗方案的选择提供依据.
목적 탐토형광원위잡교( FISH)기술화다중소식RT-PCR기술대급성백혈병(AL)환자혼합보계백혈병( MLL)기인중배검측적개치.방법 채용MLL쌍색FISH기인탐침,응용간기FISH화다중소식RT-PCR기술대189례AL환자진행검측,동시진행염색체R혹G현대.결과 179례AL환자행FISH검측,기중9례(5.03％)MLL기인중배양성[무MLL-부분천련중복(PTD)],이경다중소식RT-PCR검측적189례중16례(8.47％)MLL기인중배양성,포괄MLL/AF9、MLL/AF10、MLL/AF6、MLL/AF17、MLL/ELL、MLL-PTD,189례환자동시진행염색체R혹G현대,기중부5례(2.65％)섭급11q23적상호역위.급성림파세포백혈병(ALL)(73례)여급성수계백혈병(AML)(116례)중6충상견MLL기인중배적발생솔차이균무통계학의의(균P＞ 0.05).결론 다중소식RT-PCR기술시대초진AL환자진행MLL기인중배사검적유효방법,불부능증실상규세포유전학역위,환능검측출염색체핵형분석화FISH기술균불능검출적MLL-PTD,위예후판단화치료방안적선택제공의거.
Objective To explore the value of fluorescence in situ hybridization (FISH) and multiplex RT-PCR in the detection of mixed lineage leukemia (MLL) gene rearrangement in acute leukemia (AL) patients. Methods Dual-color MLL probe, multiplex RT-PCR and R or G banding techniques were used to detect the MLL gene rearrangement in 189 cases of AL.Results MLL gene rearrangements were detected in 9 cases (5.03 ％) by FISH,and 16 cases (8.47 ％) by multiplex RT-PCR,including MLL/AF9,MLL/AF10,MLL/AF6, MLL/AF7, MLL/ELL, MLL/PTD. R or G banding techniques could find 11q23 in 5 out of 189 patients (2.65 ％). There was no statistic difference in the incidence of 6 common MLL gene rearrangements between ALL (73 cases) and AML patients (116 cases) (P ＞ 0.05).Conclusion Multiplex RT-PCR is a powerful technique in the detection of MLL gene rearrangement for tentatively diagnosed AL.It could not only confirm translocation detected by conventional cytogenetic method, but also detect MLL partial tandem duplication which could not been detected by cytogenetic examination or FISH. It plays an important role in guiding therapy and predicting prognosis for AL.