细胞遗传学与荧光原位杂交对急性髓性白血病染色体异常的研究

目的:比较常规细胞遗传学G显带与荧光原位杂交(FISH)对急性髓白血病染色体异常的研究。方法:所有患者初诊时均做常规G显带,根据G显带结果选用相关的特异性探针进行荧光原位杂交。结果:行G显带检测的142例患者中124例获得染色体核型,18例失败。1例正常核型和3例无可供分析的分裂相的患者FISH均检出异常克隆。FISH辨别出2例t(8;21)变异易位。结论:对于有足够可分析分裂相的患者,常规细胞遗传学G显带是检测白血病染色体异常核型的可靠工具。对可疑有变异易位或因染色体形态差难以辨认的核型,或因细胞分裂指数低而分裂相少或无分裂相的患者,FISH检测是重要的补充。

Study of cytogenetic analysis and FISH for the detection of the most relevant chromosome abnormalities in acute myeloid leukemia

Objective To prospectively compare cytogenetic and molecular cytogenetic analysis for the detection of the most relevant chromosome abnormalities in acute myeloid leukemia(AML). Methods All patients were studied by chromosome G-banding analysis at diagnosis, fluorescence in situ hybridization ( FISH ) with specific DNA probes were made based on the results of G-banding. Results Assessable metaphases were obtained in 124 of 142 patients. There were no assessable metaphases in 18 patients. FISH identified chromosome aberrations in one patient with normal karyotypes and three patients in whom chromosome banding analysis was unsuccessful. Two patients with variant translocation were identified by FISH. Conclusion Conventional cytogenetic study could reliably detect chromosomal abnormalities For AML with assessable metaphases. FISH should be used as a complementary method for patients suspected of having a variant chromosomal rearrangements, or poor chromosome morphology, low or no yields of metaphase cells.