应用国产ES探针检测慢性髓系白血病的bcr／abl融合及der(9)中间缺失  

Detection of bcr/abl Fusion Gene and Its Derivative Chromosome 9 Deletions in CML by Using Home-made bcr/abl Extra-signal Probe

作　　者：赖悦云[1] 冯麟[1] 王峥[1] 吕珊[1] 党辉[1] 师岩[1] 何琦[1] 黄晓军[1] 

机构地区：[1]北京大学人民医院,北京大学血液病研究所,北京100044

出　　处：《中国实验血液学杂志》2010年第1期199-203,共5页Journal of Experimental Hematology

摘　　要：本研究旨在验证国产LSI bcr/abl ES探针检测慢性髓系白血病(CML)bcr/abl融合基因及衍生9号染色体中间缺失的有效性。应用国产LSI bcr/abl ES探针对97例经骨髓细胞形态学及常规细胞遗传学显带分析确诊的CML患者进行FISH检测,对具有der(9)中间缺失的病例再进行ASS基因探针的FISH检测,并取同期129例染色体核型正常的除外血液肿瘤性疾病及骨髓增殖性疾病患者作为阴性对照。结果显示:97例CML患者中91例染色体核型分析具有经典的t(9;22),6例为变异易位。经FISH检测所有患者均具有bcr/abl融合信号,其中16例具有der(9)中间缺失,占16.5%,在16例der(9)中间缺失的病例中13例具有ASS基因的缺失。129例阴性对照患者均未检测出bcr/abl融合。结论:国产LSI bcr/abl ES探针能有效识别bcr/abl融合及der(9)中间缺失,无假阴性及假阳性结果,ES-FISH检测结果与G显带核型具有很好的一致性。This study was aimed to verify the efficacy of home-made LSI bcr/abl ES probe for detection of bcr/abl fusion gene and derivative chromosome 9 deletions in chronic myeloid leukemia（CML）. Fluorescence in situ hybridization （ FISH ） was carried out with dual color bcr/abl extrasignal（ES） probe in 97 cases of CML based on morphology and cytogenetic karyotype and 129 cases of non-hematological malignancies/non-myeloproliferative diseases with normal cytogenetic karyotype. For the patients with signals of 1 R1 G1F indicating der（9） deletions, FISH were done using ASS DNA probe. The results showed that 91 cases with standard t （9;22） and 6 cases with variant translocation of t （9;22） were detected by conventional G banding technique. All of the 97 patients displayed bcr/abl fusion gene by ES-FISH, including 16 cases with signal patterns of 1R1G1F showing der（9） deletions. Among the 16 cases with der（9） dele- tions, 13 cases were detected to have deletions of ASS gene. Meanwhile, none of the 129 cases of negative control showed bcr/abl fusion gene by ES-FISH. It is concluded that home-made LSI bcr/abl ES probe is effective to identify the bcr/abl fusion gene and der（9） deletions in CML, and the ES-FISH results are consistent with conventional cytogenetic karyotype.

关 键 词：慢性髓系白血病 荧光原位杂交 LSI BCR/ABL ES探针 der(9)中间缺失 

分 类 号：R733.72[医药卫生—肿瘤]