138例慢性髓系白血病衍生9号染色体缺失的研究  

Deletions of Derivative Chromosome 9 in 138 Patients with Chronic Myeloid Leukemia

作　　者：王莉[1] 钱思轩[1] 仇海荣[1] 王蓉[1] 张苏江[1] 缪扣荣[1] 范磊[1] 徐卫[1] 李建勇[1] 

机构地区：[1]南京医科大学第一附属医院江苏省人民医院血液科,南京210029

出　　处：《中国实验血液学杂志》2009年第2期281-284,共4页Journal of Experimental Hematology

基　　金：国家自然科学基金(编号30700461);江苏省自然科学基金(编号BK2005155)

摘　　要：为研究慢性髓系白血病(CML)患者衍生9号染色体[der(9)]部分序列缺失情况,对138例CML患者的骨髓应用R显带技术进行核型分析,并应用bcr-abl1双色双融合DNA探针荧光原位杂交(FISH)检测der(9)部分序列缺失。结果表明,138例核型检查中Ph阳性126例(91.3%),其中典型Ph染色体易位122例;Ph阴性12例(8.7%)。FISH检测发现23例(16.7%)der(9)缺失。典型Ph染色体易位122例中20例为典型Ph染色体易位,占典型Ph染色体易位患者的16.4%,变易Ph易位4例中3例为变异易位,占变异易位患者的75%。变异易位患者中的der(9)缺失发生率明显高于典型易位患者;其中慢性期20例,占慢性期的17.2%;急变期3例,占急变期的17.6%,慢性期与急变期患者der(9)缺失的发生率无显著性差异(p>0.05)。结论:CML患者der(9)部分缺失的发生率为16.7%,FISH技术可有效检测der(9)缺失,der(9)缺失的发生率与CML的分期无相关性。To investigate the frequency of derivative chromosome 9 [ der （ 9 ） ] deletions in patients with chronic myelogenous leukemia （CML）, karyotype analysis in 138 patients with CML was performed with R-banding technique, and dual fusion fluorescence in situ hybridization （FISH） was used to detect der（9） deletion. The results showed that among 138 cases, 126 cases were Ph positive （91.3%） from which 122 cases were typical Ph translocation, 12 cases were Ph negative （8.7%）. FISH detection revealed 23 with der （9） deletions out of 138 cases （ 16.7% ）, 20 out of 122 cases with typical Ph translocation showed typical Ph transloccotin （ 16.4% ） and 3 out of 4 cases with variant Ph translocation had variant Ph translocation （75%）. 20 cases were in chronic phase （CP） （17.2%）, 3 cases were in blast crisis （BC） （17.6%）, there was no significant difference in the frequency of the der （9） deletions between the cases in CP and in BC （p 〈0.05）. It is concluded that incidence of der （9） partial deletions in CML patients is 16. 7%, FISH can effectively detect the der（9） deletions, and there is no correlation of der （9） deletion frequency between cases in different phases of CML.

关 键 词：慢性粒细胞白血病 衍生9号染色体 荧光原位杂交 

分 类 号：R733.72[医药卫生—肿瘤]