连续R显带和荧光原位杂交技术在白血病诊断中的应用

目的探讨连续R显带和荧光原位杂交技术(FISH)在鉴定自血病染色体复杂变异易位中的应用。方法对15例核型分析有疑问的标本在R显带基础上再进行荧光原位杂交。对比分析同一中期分裂相的显带和FISH结果。结果4例应用BCR／ABL探针；4例PML／RARa探针；4例AML1／ETO探针；2例IgH探针；1例MLL探针。经显带结果与FISH结果对比分析，9例疑似的复杂易位得到确证，并精确定位。6例核型结果得到修正。结论连续R显带和FISH方法在复杂变异易位的鉴定方面与传统的核型分析和直接FISH检测相比具有明显的优势。在自血病的诊断方面．对于未知异常染色体的检出将具有更广泛的应用前景。

The utilities of sequential R-banding and fluorescence in situ hybridization for the diagnosis of leukemia

Objectives To investigate the availability of sequential R banding and fluorescence in situ hybridization (FISH) technique in refining complex karyotype abnormalities in leukemia Methods 15 karyotypic undetermined cases by conventional cytogenetic analysis (CCA) received FISH analysis based on the R banding treated slides A comparative analysis was performed between R banding image and FISH image at same metaphase Results The BCR/ABL, PML/RARa, AML1/ETO, IgH , MLL probes were used in four, four, two, and one cases for FISH analysis, respectively Based on the R banding and corresponding FISH results, the undetermined complex karyotype abnormalities in nine cases were defined and involved genes were also mapped to recognized chromosomes The karyotype diagnosis of other six cases was also corrected Conclusion The sequential R banding and FISH technique has great advantage over CAA and FISH alone in the analysis of complex karyotype aberrations It is also a promising tool in diagnoses of leukemia with unrecognized chromosomal abnormalities in the future