600例慢性粒细胞白血病的细胞遗传学分析  

CYTOGENETIC ANALYSIS OF 600 CASES WITH CHRONIC MYELOGENOUS LEUKEMIA

作　　者：谢新[1] 过宇[1] 薛永权[1] 

机构地区：[1]苏州医学院附属第一医院,江苏省血液研究所

出　　处：《中华医学遗传学杂志》1998年第2期85-88,共4页Chinese Journal of Medical Genetics

基　　金：国家自然科学基金

摘　　要：目的为了探讨我国慢性粒细胞白血病（慢粒）中Ｐｈ染色体的有关特点及其意义。方法染色体制备采用骨髓细胞直接法和／或短期培养法，应用Ｒ显带技术对６００例慢粒患者的细胞遗传学资料进行了回顾性分析。结果３０例（５％）为Ｐｈ（－），５７０例（９５％）为Ｐｈ（＋）；５３５例（９３．８％）有典型Ｐｈ易位，３４例（５．９％）有变异易位，包括简单变异易位和复杂变异易位各１３例（２．２％），隐匿Ｐｈ易位８例（１．４％）；５２６例（９２．２％）的Ｐｈ（＋）细胞为１００％，４４例（７．７％）经异基因骨髓移植、干扰素和脉冲羟基脲等治疗后有部分或全部细胞转为正常核型；５０．６％的慢粒急变患者有额外的染色体异常，其中以＋８、２Ｐｈ和ｉ（１７ｑ）最多见。结论染色体检查不但有助于慢粒的诊断和鉴别诊断，而且有助于预测急变。Objective This was a retrospective analysis of cytogenetic data from 600 cases with chronic myelogenous leukemia (CML) to investigate the features of Ph chromosome and its significance.Methods Bone marrow direct method and/or short term culture were used to prepare the chromosomes and karyotype analysis was performed with R banding technique.Results 30 cases(5%) were Ph negative; 570 cases (95%) were Ph positive . 535 cases (93.8%) had standard Ph translocation; 34 cases (5.9%) had variant translocation, including 13 cases (2.2%) with simple variant translocation, 13 cases(2.2%) with complex variant translocation and 8 cases (1.4%) with masked Ph chromosome. 526 cases (92.2%) had 100% of Ph positive cells; 44 cases (7.7%) had normal karyotype in partial or all metaphases after treatment such as allogeneic bone marrow transplantation, interferon and pulse hydroxyurea therapy, but conventional chemotherapy had no effect on the percentage of Ph positive cells. 50.6% of Ph positive CML with blast crisis had extra chromosomal abnormalities, of which, the most common ones were +8(46.1%), 2 Ph (33.9%) and i (17q) (23%) in descending order.Conclusion These facts indicate that chromosome examinations not only help diagnose and differentiate CML, but also help predict the blast crisis, evaluate the therapeutic effect, and make a cytogenetic classification for CML.

关 键 词：白血病 PH染色体 变异易位 细胞遗传学 

分 类 号：R733.720.2[医药卫生—肿瘤]