Lai Yue-Yun, Feng Lin, Wang Zheng, Lü Shan, Dang Hui, Shi Yan, He Qi, Huang Xiao-Jun
Peking University People's Hospital, Peking University Institute of Hematology, Beijing 100044, China.
Zhongguo Shi Yan Xue Ye Xue Za Zhi. 2010 Feb;18(1):199-203.
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 extra signal (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 1R1G1F 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) deletions, 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.
本研究旨在验证自制的LSI bcr/abl ES探针检测慢性髓性白血病（CML）中bcr/abl融合基因及衍生染色体9缺失的有效性。基于形态学和细胞遗传学核型，对97例CML患者以及129例细胞遗传学核型正常的非血液系统恶性肿瘤/非骨髓增殖性疾病患者，采用双色bcr/abl额外信号（ES）探针进行荧光原位杂交（FISH）检测。对于显示der(9)缺失的1R1G1F信号患者，使用ASS DNA探针进行FISH检测。结果显示，采用传统G显带技术检测出91例标准t(9;22)和6例t(9;22)变异易位患者。97例患者经ES-FISH均显示bcr/abl融合基因，其中16例呈现1R1G1F信号模式，显示der(9)缺失。在这16例der(9)缺失患者中，13例检测到ASS基因缺失。同时，129例阴性对照经ES-FISH均未显示bcr/abl融合基因。结论：自制的LSI bcr/abl ES探针可有效识别CML中的bcr/abl融合基因及der(9)缺失，且ES-FISH结果与传统细胞遗传学核型一致。
