染色体核型和bcr/abl融合基因表达与慢性髓细胞白血病急变的关系

目的 探讨慢性髓细胞白血病(chronic myelogenous leukemia,CML)的细胞遗传学特性及其与病程发展的关系.方法 短期培养法直接法G显带检测CML的骨髓染色体核型,双色荧光原位杂交检测CML的bcr/abl融合基因,统计学方法采用t 检验.结果 264例CML患者的骨髓染色体检测,检测出Ph染色体阴性14例,阴性率5.3 %,其余为Ph染色体阳性,阳性率为94.7%.在观察到CML急变的43例患者中,标准Ph染色体22例,Ph染色体阴性9例,双Ph染色体2例,变异Ph染色体3例,标准Ph染色体伴其它染色体易位3例,Ph染色体阴性伴其它染色体易位1例,Ph染色体阴性伴倒位2例,Ph染色体阳性伴倒位1例.43例患者中24例患者急变时发生了染色体核型及融合基因改变,19例患者染色体核型及融合基因没有发生变化;t(9;22)(q11;34)]的CML患者与Ph-,变异Ph,复杂染色体]的CML患者急变时间(月)差异有统计学意义(P＜0.05).结论(1)慢性髓细胞性白血病加速/急变期发生克隆演化;(2)Ph-,变异Ph,复杂染色体]的CML患者急变时间(月)明显短于t(9;22)(q11;34)]的CML患者;(3) 染色体核型和bcr/abl融合基因表达可为诊断提供可靠、可循的依据,对预后判断有重要意义.

The Relation of Karyotype and bcr/abl Fusion Gene with the Blast Crisis of Chronic Myeloid Leukemia

Objective To explore the relation of chronic myeloid leukemia cytogenetic characteristics and disease development.Methods Direct short-term culture gbanding was used to detect the of karyotype of bone marrow chromosome in CML patients.Two-color fluorescence in situ hybridization was used to detect the bcr/abl fusion genes in CML patients.t test was used to statistically analyze the data.Results In the 264 cases of CML patients with bone marrow chromosomal testing,Ph negative chromosome was detected in 14 cases,the negative rate was 5.3%,the remaining cases were Ph positive chromosome and variation of ph chromosome,the positive rate was 94.7%.In 43 CML patients in blast crisis period,standard Ph chromosome was found in 22 cases,Ph negative chromosome in 9 cases,double Ph chromosome in 2 cases,the variation of Ph chromosome in 3 cases,standard Ph chromosome with other dasypyrum in 3 cases,Ph negative chromosome with other dasypyrum in 1 case,Ph negative chromosome with inversion in 2 cases,Ph positive chromosome with inversion in 1 case.Karyotype and fusion gene change occurred in 24 of 43 patients in blast crisis,and 19 cases had no change in the karyotypical chromosmes andhe fusion gene.t test showed that there was significant differences in acceleration/blast crisis time(month)among patients CML patients with standard Ph chromosome,Ph negative chromosome and variation of Ph chromosome.(P<0.01).Conclusions(1) Cloning evolution occurred in 55.8% of patients with chronic myeloid leukemia in acceleration/blast crisis period.(2)The accelevation/blast crisis period of CML patients wiht Ph negative,Ph variant and complex chromsome was shorter than that of CML patients with t(9;22)(q11;34)].(3)The CML cellheredity not only provide a reliable evidence for the diagnosis,and also plays an important role in the prognosis of CML.