目的分析105例 Ph~+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(以下简称缺失)情况,同时探讨该缺失与易位类型及临床预后的联系。方法所有患者均采用骨髓细胞直接法和(或)短期培养法制备染色体,采用 R 显带技术进行核型分析。应用 ber-abl 双包双融合 DNA 探针对骨髓间期细胞进行荧光原位杂交(FISH)检测以发现有无 der(9)部分序列的缺失,随访患者并收集临床资料。结果 105例 Ph~+CML 患者中,典型 Ph 染色体易位76例,变异 Ph 染色体易位29例。16例(15.2%)患者伴有缺失,其中典型 Ph 染色体易位12例(占典型易位总数的15.8%),变异 Ph 染色体易位4例(占变异易位总数的13.7%)。变异 Ph 染色体易位与典型 Ph 染色体易位患者的缺失发生率差异无统计学意义(P>0.05)。在伴有缺失的患者中,所有 Ph~+中期和间期细胞均伴有缺失,只有伴有5′abl 和3′ber 同时缺失的3例患者同时存在单纯5′abl 或 3′ber 缺失的间期细胞杂合。伴有缺失的患者同不伴有缺失的患者在外周血白细胞计数、血红蛋白含量及血小板计数上差异无统计学意义。随访结果表明,伴有缺失的患者的中位生存期(34个月)比不伴有缺失的患者的中位生存期(76个月)明显缩短,差异有统计学意义(P<0.01)。结论 der(9)缺失在我们研究的Ph~+CML 患者中的发生率约为1/6,该类患者中位生存期较短,提示它是一个不良的预后指标。 Objective To analyze the deletion of partial sequence of der (9) derived from 105 cases of Ph + chronic myeloid leukemia (CML) and discuss the relationship between the deletion and the type of translocation and clinical prognosis. Methods All patients were using bone marrow cell direct method and / or short-term culture method to prepare chromosomes. The karyotype analysis was performed by R-banding technique. Using the double-double-double-stranded DNA probe of ber-abl, bone marrow cells were detected by fluorescence in situ hybridization (FISH) to find out whether there was any deletion of the der (9) sequence. The patients were followed up and clinical data were collected. Results Among 105 cases of Ph + CML patients, 76 cases were typical Ph chromosome translocation and 29 cases were mutation Ph chromosome translocation. Sixteen patients (15.2%) were associated with deletion, of which 12 were typical Ph chromosome translocations (15.8% of the total number of typical translocations) and 4 were variant Ph chromosome translocations (13.7% of total translocations). There was no significant difference in the deletion rate between variant Ph chromosome translocation and typical Ph chromosome translocation (P> 0.05). In patients with deletion, all Ph ~ + metaphase and interphase cells were associated with deletion, and only 3 patients with both 5’abl and 3’ber deletions had either a simple 5’abl or a 3’ber deletion Interphase cells are heterozygous. There were no significant differences in peripheral blood white blood cell count, hemoglobin and platelet count between patients with and without deletion. The follow-up results showed that the median survival (34 months) in patients with deletion was significantly shorter than that in patients without deletion (76 months), the difference was statistically significant (P <0.01). CONCLUSIONS: The incidence of der (9) deletion in our Ph ~ + CML patients was approximately 1 in 6, and their median survival was short, suggesting that it is a poor prognostic marker.