间期荧光原位杂交技术检测恶性血液病的11q23/MLL基因重排

目的分析伴有11q23／MLL基因重排的恶性血液病的细胞遗传学特点，探讨荧光原位杂交技术（FISH）在诊断及鉴定恶性血液病11q23／MLL基因重排中的价值。方法用间期FISH分析11q23／MLL基因易位细胞的30例恶性血液病患者的核型特征，用MLL双色分离探针绿色标记在（5′MLL，光谱绿）和（3′MLL，光谱桔红）。结果应用常规细胞遗传学及间期FISH分析白血病患者30例，结果显示11q23＋／MLL＋患者9例（30．0％），12q23-／MLL＋患者4例（13．3％），11q23＋／MLL-患者2例（6．7％），11q23-／MLL-患者15例，检测到部分病例染色体核型分析与间期FISH方法检测11q23异常与MLL基因重排不一致。结论FISH在检测11q23／MLL基因重排方面与传统的常规细胞遗传学相比具有检出率高的优势，能更有效、直观地分析恶性血液病的染色体异常，对于恶性血液病的诊断以及异常染色体的检出具有广泛的应用前景。

Detection of 11q23/MLL gene rearrangement in hematological malignancies with fluorescence in situ hybridization assay

Objective To analyze the cytogenetical characteristic of 11q23/MLL gene rearrangement in hematological malignancies and to investigate the value of fluorescence in situ hybridization (FISH) assay in the diagnosis and appraisal of 11q23/MLL gene rearrangement.Methods FISH assay was performed to analyze the karyotypic characteristic of 11q23/MLL gene rearranged cells in 30 patients with hematological malignancies. The dual color probe was adopted. 5′MLL was labeled with spectrum green and 3′MLL labeled with spectrum orange.Results The incidence of 11q23+/MLL+ in acute leukemia (AL) patients was 30.0% (10 out of 30 cases) and 11q23-/MLL+ was 13.3% (4 cases) , and 11q23+/MLL- was 6.7% (2 cases) and the karyotype of 15 cases was normal. For some patients, different results were obtained by using conentional cytogenetical analysis and interphased FISH assay for detecting 11q23/MLL gene rearrangements.Conclusion FISH assay has greater advantage over cytogenetical study in the analysis of 11q23/MLL abnormality. It is also a promising tool in diagnosis of hematological malignancies and chromosomal abnormalities.