211例慢性粒细胞白血病染色体核型分析

Chromosome karyotype analysis of 211 cases with chronic myeloid leukemia

目的探讨慢性粒细胞白血病(CML)中细胞遗传学的特点和不同病期染色体核型演变的特点及其意义。方法采用骨髓直接法和短期培养法制备染色体,应用R显带技术对211例CML患者进行染色体核型分析。结果Ph+患者占91.5%,Ph-患者占5.7%。在Ph+患者中,93.8%为典型Ph染色体阳性,6.2%为变异型Ph染色体阳性。19.7%的患者发生染色体核型演变。急变期、加速期和慢性期染色体核型演变的发生率分别为66.7%、50%、2.1%。结论染色体核型分析对慢粒的诊断及预后具有重要的意义,CML病程中定期、多次进行染色体检测有助于早期诊断CML急变。

Objective To explore the cytogenetic features of chronic myeloid leukemia（CML）and the karyotype evolution characteristics in different stage of CML.Methods Chromosome preparation was made using direct method or short-term culture of bone marrow cells.Karyotypic analysis for all 211 cases was carried out by R-banding technique.Results 91.5% was Ph chromosome positive（Ph＋）and 5.7% negative（Ph-）.In the Ph＋ patients,93.8% was classical Ph and 6.2% variant rearrangements.Additional genetic changes were demonstrated in 19.7% cases.Cytogenetic clonal evolution was found in 66.7% of patients in blast crisis（BC）50%in accelcrated phase（AP）,and 2.1%in chronic phase（CP）.Conclusion Chromosome karyotypic analysis is important in the diagnosis and judging prognosis of CML.Regular and repeated tests can help early diagnosis of CML blast crisis.