八探针荧光原位杂交联合R显带技术诊断儿童急性淋巴细胞白血病

摘要

Objective To assess the value of eight-probe fluorescence in situ hybridization (FISH)and R-banding karyotype analysis for the diagnosis of acute lymphoblastic leukemia (ALL).Methods With the eight-probe FISH (using probes for MYC,P16,E2A,CHIC2/D10Z1/D17Z1,TEL/AML1,MLL,BCR/ABL1,and IGH) and R-banding karyotype analysis,237 cases of ALL were analyzed.Results Cytogenetic changes were detected in 135 (56.96％) of all cases,which have involved MYC,P16,E2A,CHIC2/D10Z1 /D17Z1,TEL/AMLl,MLL,BCR/ABL1,and IGH polyploidies.R-banding karyotype analysis has only detected abnormalities in 48 of such cases,in addition with 14 abnormalities missed by the FISH probes,which have given a total positive rate of 26.16％.The detection rate of the two methods has differed significantly (P＜0.05).Conclusion Compared with the R-banding karyotype analysis,the eightprobe FISH is more accurate and efficient.Diagnosis of cytogenetic abnormalities for children with ALL using the combined method can provide a basis for evaluation of prognosis as well as personalized therapy.%目的 探讨八探针荧光原位杂交(fluorescence in situ hybridization,FISH)联合R显带染色体核型分析应用于儿童急性淋巴细胞白血病(acute lymphoblastic leukemia,ALL)诊断的价值.方法 应用八探针FISH (MYC、P16、E2A、CHIC2 /D10Z1/D17Z1、TEL/AMLl、MLL、BCR/ABL1、IGH的DNA探针)和R显带染色体核型分析技术,对237例ALL患儿进行了联合检测.结果 八探针FISH技术在135例患儿中总共检出了细胞遗传学改变,总体阳性率为56.96％,包括MYC、P16、E2A、CHIC2/D10Z1/D17Z1、TEL/AML1、MLL、BCR/ABL1、IGH等8种细胞遗传学异常.而R显带核型分析对于相对应的细胞遗传学异常仅检出48例,另检出14例八探针FISH未能检出的异常,总阳性率为26.16％.两种方法检出阳性率的差异有统计学意义(P＜0.05).结论 八探针FISH技术较R显带染色体核型分析具有准确、高效、省时、省力等优点,可与染色体核型分析有效互补,并且每种细胞遗传学异常都可为儿童ALL的诊断、预后评估和个体化治疗提供重要依据.