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目的探讨41例具有高超二倍体的ALL患儿的遗传学、融合基因和免疫表型特点以及对预后的判断。方法226例ALL患儿常规R显带分析染色体核型,FISH检测融合基因,双激光6色流式细胞术检测免疫分型。结果 R显带染色体核型分析共检出高超二倍体41例(18.14%),常见增多的染色体按检出率从大到小依次为+21、+8、+18和+6等。FISH检测儿童ALL遗传学异常阳性率明显高于常规染色体核型分析,异常包括AML1信号扩增(40.22%)、BCR信号扩增(20.65%)、TEL/AML1融合(21.20%)、MLL断裂(13.04%)、ABL信号扩增(3.92%)、TEL信号扩增(8.70%)、BCR/ABLL融合(6.52%)。8例复发患者中5例伴CD20表达,2例伴T淋巴系统表达,其中1例同时表达CD20和T淋巴系统抗原。结论联合R显带染色体核型分析与FISH检测超二倍体和融合基因和流式细胞术检测免疫分型,对白血病的预后判断与指导临床治疗有重要价值,三者联合应用可提高儿童染色体异常检出率。
Objective To investigate the genetics, fusion genes and immunophenotypes of 41 children with hyper-diploid ALL and to judge the prognosis. Methods Totally 226 cases of ALL children with conventional R banding karyotype analysis, FISH fusion gene detection, dual-laser 6-color flow cytometry immunophenotype. RESULTS: There were 41 cases (18.14%) of hyper-diploid chromosomes detected by R-banding karyotype analysis. The most common chromosomes were detected as +21, +8, +18 and +6 in descending order. The positive rate of ALL gene abnormalities detected by FISH was significantly higher than that of conventional karyotype analysis. The abnormalities included AML1 signal amplification (40.22%), BCR signal amplification (20.65%), TEL / AML1 fusion (21.20%), MLL rupture 13.04%), ABL signal amplification (3.92%), TEL signal amplification (8.70%) and BCR / ABLL fusion (6.52%). Of the 8 patients with recurrent disease, 5 had CD20 expression and 2 had T lymphoid system expression, of which 1 also expressed CD20 and T lymphoid antigen. Conclusion The combination of R-banding karyotype analysis and FISH detection of diploid and fusion gene and flow cytometry for detecting immunophenotypes has important value in judging the prognosis of leukemia and guiding the clinical treatment. The combination of the three can improve the chromosomes of children Abnormal detection rate.