摘要目的 探讨多种遗传学技术在检测儿童急性单核系白血病混合谱系白血病基因(mixed lineage leukemia,MLL)重排中的应用.方法 联合应用间期荧光原位杂交(fluorescence in situ hybridization,FISH)、R显带骨髓染色体核型分析和逆转录PCR技术对86例急性单核系白血病患儿进行MLL基因重排检测.结果 86例患儿中FISH检测到26例有阳性杂交信号,MLL基因重排检出率为30.2％.R显带核型分析检出涉及11q23的相互易位及断裂14例,其它异常5例,检出率为22.1％.多重逆转录PCR检测到MLL易位产生的融合基因12例,检出率为14.0％.3种方法阳性检出率差异有统计学意义(P＜0.05).结论 联合应用FISH、R显带骨髓染色体核型分析和逆转录PCR技术对急性白血病患儿进行检测,可提高MLL基因重排的检出率,为临床诊断、治疗和预后判断提供重要依据.

abstractsObjective To assess the value of detecting multiple rearrangements of MLL gene in children with acute mononuclear leukemia (AML).Methods Eighty six children with AML were analyzed by fluorescence in situ hybridization (FISH),chromosomal karyotyping and multiplex reverse transcriptionPCR (RT PCR).Results Cross signals were detected by FISH in 26 cases,and 30.2％ were detected with MLL gene rearrangements.R-band karyotyping analysis revealed 14 translocations with breakages involving 11q23 and 5 other aberrations,which yielded an overall detection rate of 22.1％.Multiple RTPCR has detected 12 fusion genes produced by the MLL translocation,which yielded a detection rate of 14.0％.A significant difference was found in the detection rate of the three methods (P ＜ 0.05).Conclusion Combined use of FISH,chromosomal karyotyping and multiplex RT-PCR can improve the detection of MLL gene rearrangements and provide important clues for clinical diagnosis,treatment and prognosis of AML.