荧光原位杂交技术在变异型Ph染色体易位及Ph阴性慢性粒细胞白血病诊断中的应用
[Application of fluorescence in situ hybridization technique in diagnosis of variant Ph chromosome translocation and Ph-negative chronic myelocytic leukemia].
作者信息
Jing Yuan, Jiang Feng, Lin Shuang, Wang Fang-ting, Fang Mei-yun
机构信息
Department of Hematology, the First Affiliated Hospital, Dalian Medical University, Dalian, Liaoning, P.R. China.
出版信息
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2010 Oct;27(5):563-6. doi: 10.3760/cma.j.issn.1003-9406.2010.05.019.
OBJECTIVE
To explore the value of fluorescence in situ hybridization (FISH) technique in diagnosis of variant Ph chromosome translocation (VT) and Ph chromosome-negative chronic myelocytic leukemia (CML).
METHODS
Nine CML patients with VT and 2 Ph chromosome-negative CML patients confirmed by R banding were assayed with dual color-dual fusion BCR/ABL probe by FISH.
RESULTS
The 9 patients with VT involved chromosomes 1, 3, 5, 12, 13, 15, 17 and 21 besides chromosomes 9 and 22, and some of them showed recurrent aberrations; FISH results were positive and the signal feature was 2R2G1Y. The 2 Ph-negative CML patients had normal karyotypes; FISH was positive and the signal feature was 1R1G2Y and 1R1G1Y respectively.
CONCLUSION
FISH can provide better diagnosis for CML with VT and Ph-negative CML. Abnormal karyotype and marker gene changes can be assessed based on the signal feature of the positive cell. So FISH is a complementary method to banding technique in diagnosis of CML.
目的
探讨荧光原位杂交（FISH）技术在诊断变异型Ph染色体易位（VT）及Ph染色体阴性慢性髓性白血病（CML）中的价值。
方法
采用双色双融合BCR/ABL探针，通过FISH技术对9例经R显带证实的VT型CML患者及2例Ph染色体阴性CML患者进行检测。
结果
9例VT型患者除9号和22号染色体外，还涉及1、3、5、12、13、15、17和21号染色体，部分患者出现反复畸变；FISH结果为阳性，信号特征为2R2G1Y。2例Ph阴性CML患者核型正常；FISH结果为阳性，信号特征分别为1R1G2Y和1R1G1Y。
结论
FISH技术可为VT型CML及Ph阴性CML提供更好的诊断。可根据阳性细胞的信号特征评估核型异常及标记基因变化。因此，FISH技术是CML诊断中对显带技术的一种补充方法。
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