染色体核型动态监测在慢性粒细胞白血病中的应用

Application of karyotyping for the dynamic monitoring of chronic myeloid leukemia

目的探讨染色体核型分析在慢性粒细胞白血病(CML)病程中的动态变化及意义。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92例CML患者进行动态染色体核型分析。结果 92例患者初诊时均为Ph染色体阳性(Ph+),在监测过程中,有18例(19.7%)患者发生核型演变,出现了额外的染色体。慢性期、加速期和急变期患者出现新的染色体核型异常的发生率分别为2.9%(2/69)、50.0%(1/2)和71.4%(15/21)。8例急变期病人进行了积极化疗,其中2例附加单纯的结构或数目的患者获得完全缓解(CR),附加3条以上染色体复杂异常的6例患者只有1例获得CR,3例无效,2例在半年内死亡。结论 Ph+CML出现额外染色体异常,提示病情进展,尤其是附加的染色体越复杂,预后越差。在CML病程中密切监测染色体核型动态变化有助于临床疗效观察、预后判断及指导临床及时调整治疗。

Objective To explore the dynamic changes and significance of karyotype in the course of chronic myeloid leukemia（CML）. Methods Chromosome preparation was made using direct method or short-term culture of bone marrow cells.Karyotype analysis for all 92 cases was carried out by R-banding technique. Results All of the 92 patients were Ph＋ when initially diagnosed. There were 18 cases（19.7%） of patients with extra chromosome in the monitoring process. 2.9%（2/69）of patients had cytogenetic clonal evolution in chronic phase,50.0%（1/2） in accelcrated phase,and 71.4%（15/21） of patients in blast crisis. 8 blast crisis cases received chemotherapy; in which,2 patients with a simple structure or number of chromosomal abnormalities had complete remission（CR）; 6 patients with complex chromosomal abnormalities,only 1 patient had complete remission,2 patient died within six months and 3 patients had no effect. Conclusion Developing of extra chromosomal abnormalities in Ph＋CML indicating the progress of the disease,especially the more complex of theadditional chromosome,the worse was the prognosis. Close monitoring the dynamic changes of the karyotype could be helpful to evaluate the clinical curative effect and prognosis and guide the clinical treatment for CML.