Ph染色体阳性慢性粒细胞白血病的细胞遗传学研究

Cytogenetic study in Philadelphia chromosome positive chronic myeloid leukemia

目的 研究Ph染色体阳性慢性粒细胞白血病即Ph (+ )CML患者的核型状况与病程变化、预后的关系 .方法 采用直接法和短期培养法制备骨髓细胞染色体 ,通过G显带对 198例Ph (+ )CML患者进行染色体核型分析 .结果 ⑴Ph(+ )CML患者中 193例为典型Ph易位 ,占 97.5 %,5例为变异Ph易位 ,占 2 .5 %;⑵急变期超二倍体发生率 (10 .8%)较慢性期 (4.2 %)有显著性差异 (P <0 .0 5 ) ;⑶ 4 1例慢性期患者 (32 .3%)合并额外染色体异常 ,主要异常核型有 19种 ,以 + 8、2个Ph ,-Y较为多见 ;⑷ 2 6例急性期患者 (78.8%)出现额外染色体改变 ,主要异常核型有 2 1种 ,以 2个Ph ,+ 8,i(17q) ,+ 19较多见 ;⑸急变后只有Ph染色体者和同时具有Ph及额外染色体异常者的中位生存期分别为 5 .5月、3.6月 ,二者有显著性差异 (P <0 .0 5 ) .结论 额外染色体畸变的有无及程度与Ph (+ )CML病程进展、预后密切相关 .

Objective This study was explore the relationship between cytogenetic change and prognosis in patients with Ph(+) CML. Methods Chromosome of preparations were made on bone marrow cells in 198 cases using direct method and short-term culture. karyotypes were analyzed by G-banding. Results ⑴ 193 cases (97.5%) had standard translocation of Ph, and 5 cases (2.5%) had variable translocation of Ph. ⑵ Hyperdiploid frequencies in blast phase (10.8%) and in chronic phase (4.2%)were of significant differences b...