变异型Ph易位慢性粒细胞白血病der(9)缺失的FISH研究

FISH studies of deletion of derivative chromosome 9 in chronic myeloid leukemia patients with variant philadelphia translocations

目的研究29例变异型Ph易位慢性粒细胞白血病(CML)患者衍生9号染色体[der(9)]部分序列的缺失情况。方法患者骨髓标本采用直接法和短期培养法制备染色体,采用R显带技术进行核型分析。运用BCR-ABL双色双融合DNA探针对骨髓间期细胞进行荧光原位杂交(FISH)技术检测der(9)染色体部分序列的缺失。结果29例变异型Ph易位CML患者中,4例伴有缺失,4例Ph+中期和间期细胞均伴有缺失。结论在变异性Ph易位(CML)病患者中der(9)缺失的发生率13.7%,该缺失是不良预后指标。

Objective To study the frequency of the deletion of derivative 9 [der（9）] among chronic myeloid leukemia （CML） patients with variant Ph translocation.Methods Direct method and /or 24h culture method were used in cytogenetic analysis of bone marrow cells.Dual-color and dual-fusion DNA probe was used to perform FISH to investigate the deletion of der（9） in Ph＋ CML patients.Results In 29 patients with variant translocation,deletion of der（9） were detected in 4cases.Conclusion The frequency of the deletion of derivative 9 is 13.7%.When the deletion was seen in a patient,it was present in all the Ph＋ metaphases and nuclei.It is a poor prognostic index.