联合常规核型分析和FISH在儿童急性淋巴细胞白血病中的应用价值

Value of conventional cytogenetic analysis combined with FISH in diagnosis of acute lymphoblastic leukemia children

目的探讨常规染色体核型分析联合荧光原位杂交(fluorescence in situ hybridization,FISH)技术在检测儿童急性淋巴细胞白血病(acute lymphoblastic leukemia,ALL)遗传学异常的临床价值。方法分别采用染色体R显带技术和组合FISH对189例儿童ALL骨髓标本进行分析。结果 189例ALL中有129例FISH检测出有遗传学异常,异常检出率为68.25%,其中常见的有+10(46.72%),+17(48.68%),+4(29.63%),AML扩增(30.16%),BCR扩增(15.87%),TEL/AML融合(20.63%),MLL断裂(11.11%),BCR/ABL融合(5.29%)。常规染色体R显带分析异常检出率仅为38.41%。FISH检测ALL遗传学异常阳性率明显高于常规染色体分析(P<0.001),且两者结合可将检出率提高至78.31%。结论染色体核型分析和组合FISH相互联合可以显著提高儿童ALL遗传学异常的检出率,为儿童ALL的预后判断提供更多实验室依据。

Objective To explore the clinical value of conventional cytogenetic analysis（CCA） and fluorescence in situ hybridization （FISH） in diagnosis of chromosomal abnormalities in acute lympholblastic leukemia（ALL） children.Methods CCA and FISH were performed to detect chromosomal abnormalities in 189 children with ALL.Results The detection rate of chromosomal abnormalities was 68.25％ by FISH and 38.41％ by CCA.Common chromosomal abnormalities detected by FISH in ALL children were ＋ 10 （46.72％）,＋ 17 （48.68％）,＋ 4 （29.63％）,AML amplification （30.16％）,BCR amplification （15.87％）,TEL/AML fusion （20.63％）,MLL breakage（11.11％）,and BCR/ABL fusion （5.29％）.The positive rate of genetics abnormalities detected by FISH was obviously higher than that of CCA（P ＜0.001）,and the detection rate by the combination of FISH and CCA increased to 78.31％.Conclusion CCA combined with FISH can improve the detection rate of genetics abnormalities in ALL children and can be considered as an important basis for prognostic assessment in ALL children.