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目的应用八探针间期荧光原位杂交技术(FISH)联合染色体核型分析观察急性淋巴细胞白血病(ALL)成人患者与儿童患者的细胞遗传学差异。方法对125例ALL患者(成人86例、儿童39例)全部行八探针FISH(MYC、P16、E2A、TEL/AML1、BCR/ABL、MLL、IGH、多倍体的DNA探针)检测并染色体核型分析。结果八探针FISH检测结果显示,成人ALL患者与儿童ALL患者的TEL/AML1融合基因、BCR/ABL融合基因与多倍体阳性率之间的差异有统计学意义(P<0.05);染色体核型分析成人ALL患者与儿童ALL患者的(t9;22)易位、多倍体阳性率之间的差异有统计学意义(P<0.05)。结论成人ALL患者与儿童ALL患者融合基因表达各有侧重,不同的细胞遗传学特征与其预后密切相关。FISH多探针诊断系统检测ALL患者常见遗传学异常省时、准确、高效,与染色体核型分析形成很好的互补。
Objective To investigate the cytogenetic differences between adult and pediatric patients with acute lymphoblastic leukemia (ALL) by using eight probes interphase fluorescence in situ hybridization (FISH) combined with karyotype analysis. Methods 125 patients with ALL (86 adults and 39 children) were examined by FISH (MYC, P16, E2A, TEL / AML1, BCR / ABL, MLL, IGH and polyploid DNA probes) Chromosomal karyotype analysis. Results Eight-probe FISH results showed that there was significant difference between TEL / AML1 fusion gene and BCR / ABL fusion gene and polyploidy positive rate in adult ALL patients and children ALL patients (P <0.05) (T9; 22) translocation and polyploidy positive rate in adult ALL patients and children ALL patients were statistically significant (P <0.05). Conclusion The expression of fusion gene in adult ALL patients and childhood ALL patients have different emphases. The different cytogenetic characteristics are closely related to their prognosis. FISH multi-probe diagnostic system for detection of common genetic abnormalities ALL patients save time, accurate and efficient, and karyotype analysis of the formation of a good complementarity.