荧光原位杂交和常规细胞遗传学在慢性粒细胞白血病研究中的应用

The Study of Fluorescence in situ Hybridization and Conventional Cytogenetics Analysis to Detection of Clonal Chromosomal Aberrations in Chronic Myeloid Leukemia

目的:应用荧光原位杂交(FISH)和染色体核型分析技术,探讨慢性粒细胞白血病(CML)细胞遗传学特点与临床预后的相关性。方法:采用骨髓细胞直接法和(或)短期培养法制备染色体标本,采用热变性姬姆萨显带技术(RHG)进行染色体核型分析。荧光染色体原位杂交技术检测40例CML患者的BCR/ABL融合基因。回顾分析282例CML的临床及细胞遗传学资料。结果:常规细胞遗传学(CC)分析表明,282例患者中268例Ph染色体阳性,占95.04%;14例Ph染色体阴性,占4.96%。其中250例Ph阳性细胞为100%,占90.32%。12例Ph阳性细胞为30%～99%,占4.48%,核型显示正常与Ph嵌合状态。6例核型为复杂变异异位,占2.24%。41例除Ph染色体外,还出现额外染色体异常,占15.30%,分别为双Ph,+8,+22,-Y,i(17q)等,其中28例为加速或急变患者,占68.29%。应用FISH技术检测,BCR/ABL融合基因阳性34例(含14例Ph染色体阴性中的8例),占85%;BCR/ABL阴性6例,占15%。结论:在常规细胞遗传学分析的基础上,选用分子遗传学FISH技术可以明显提高染色体异常的检出率及准确率。细胞遗传学对于CML的正确诊断、指导临床治疗、判断预后具有重要价值。

Objective：To investigate the correlation of prognosis with cytogenetic in chronic myeloid leukemia patients. Methods：Bone marrow direct method and/or 24h culture without phytohaemagglutimin were used to prepare the chromosomes and karyotype analysis was performed with R-banding techniques. Results： Among 282 patients with CML, 268 cases（95.04%）were Ph positive, 14 cases（4.96%） were Ph negative. In 250 of 268 cases（90.32%）, the rate of Ph positive chromosome were 100 percentage. Those in 12 cases（4.48%） were detected by the positive percentage from 30.00% to 99.00%. They were the chimera of Ph positive and ph negative. In 41 cases, besides the Ph positive,the abnormality were detected,such as double Ph,＋ 8, ＋ 22,i（17q）. Among these, 28 cases（68. 29 %） were accelerating or blastic phase patients. Detected by FISH technology, 34 cases（85 %） were BCR/ABL positive, 6 cases（15 % ） were BCR/ABL negative. Conclusion： On the basis of conventional cytogenetics analysis, FISH analysis technology can promote the positive rate andaccuracy in detecting. The chromosome and karyotype analysis technology has great value in the diagnosis of CML, also it plays an important role in instructing clinical therapy and prognosis.