儿童急性淋巴细胞白血病遗传学特征

目的：分析儿童急性淋巴细胞白血病（ALL）遗传学变化的特点.方法：以94例初发ALL患儿为研究对象,采用染色体核型分析及多重PCR技术检测患者骨髓白血病细胞的细胞遗传学和分子生物学变化.结果：63例患儿做了核型分析,有分裂象者55例,其中异常者12例（19.0%）;无分裂象者8例（12.7%）.对93例患儿进行了多重PCR检测,其中包括53例染色体有分裂象患儿和8例无分裂象的患儿,41例正常染色体核型患儿中异常者为17例（占41.5%）,12例染色体核型异常者中融合基因异常者4例（33.3%）,无分裂象患者异常2例,无分裂象检出率与有分裂象者核型分析异常检出率差异无统计学意义;93例患儿中融合基因检出率为34.4%（32/93）,其中TEL/AML1融合基因阳性20例（21.51%）,MLL重排3例（3.23%）,BCR/ABL（p190）融合基因阳性3例（3.23%）,E2A/PBX阳性5例（5.38%）,HOX11阳性1例.94例患儿通过两种检测方法共检出细胞遗传学异常46例（48.94%）.结论：儿童ALL可出现细胞遗传学改变.对于有足够分裂象的患者,常规染色体核型分析仍是可靠的方法.对分裂象质量低或无分裂象的儿童ALL患者,多重PCR检测异常克隆能提高细胞遗传学异常检出率.将染色体核型分析及多重PCR结合起来可提高细胞遗传学异常检出率.

Genetic characteristics of children with acute lymphoblastic leukemia

Objective：To analyze the characteristics of genetic variation of children with acute lymphoblastic leu- kemia（ALL）. Methods：All 94 cases of primary ALL children were selected as the research object,using chromosome karyotype analysis and multiple PCR detection method to examine leukemia cells in bone marrow of the patients to an- alyze eytogenetie and molecular biological changes. Results：Total of 63 eases were tested for karyotype analysis,55 eases had mitosis,the abnormal in 12 cases （19%）. 8 eases without splitting（12.7% ）. Total of 93 cases of children were tested with multiple PCR,including 53 cases of chromosomes in mitosis and 8 patients without mitotic figure in children, 17 cases （41.5%） had abnormalities in 41 cases with normal karyotype,4 cases had fusion genes in 12 ea- ses of abnormal chromosome karyotype（33.3% ） ,2 cases with no mitotic showed abnormalities by PCR,there was no significant difference of karyotype abnormal detection rate between no mitotic and mitosis children. The detection rate of gene fusion was 34.4% in 93 eases（32/93） ,the TEL/AML1 fusion gene was positive in 20 eases（21.51% ） ,3 eases（3.23% ） ,MLL rearrangement BCR/ABL（p190） fusion gene was positive in 3 eases（3.23% ） ,E2A/PBX was positive in 5 eases（5.38% ） ,HOX11 was positive in 1 case. Use two kinds of detection methods can detect 46 cases of abnormal eytogeneties（48.94% ） in 94 cases. Conclusion：Children with ALL maybe appear the eytogenetie chan- ges, for patients with a stffficient mitotic chromosome karyotype analysis,the conventional method is reliable,to those have the splitting image quality low or no mitoses,multiplex PCR detection can improve the detection rate of abnormal eytogenetie,the chromosome karyotype analysis and multiple PCR combined can improve the eytogenetie abnormality rate.