常规细胞遗传学分析和荧光原位杂交方法检测白血病11q23/MLL基因重排  

Conventional Cytogenetics and Fluorescence in situ Hybridization as Methods for Detecting MLL Gene Rearrangements in Leukemia

作　　者：刘旭平[1] 李承文[1] 秦爽[1] 代芸[1] 肖继刚[1] 黄琪[1] 徐方运[1] 贡金英[1] 刘世和[1] 

机构地区：[1]中国医学科学院,中国协和医科大学血液学研究所血液病医院检测中心,血液病医院检测中心天津300020

出　　处：《中国实验血液学杂志》2005年第5期798-803,共6页Journal of Experimental Hematology

摘　　要：本研究比较常规细胞遗传学(conventionalcytogenetics,CC)分析,间期荧光原位杂交(fluorescenceinsituhybridization,FISH)技术及连续R显带后FISH(sequentialRbandingandFISH)检测混合系列白血病(mixedlineageleukemia,MLL)基因重排的应用价值。应用常规细胞遗传学及间期FISH分析我院白血病患者37例,结果显示11q23+/MLL+患者10例,11q23-/MLL+患者2例(5.4%),11q23+/MLL-患者3例(8.1%),11q23-/MLL-患者22例。部分病例CC与间期FISH方法检测11q23/MLL基因重排得到了不一致的结果。对6例患者进行连续R显带后FISH分析后,对照核型和FISH图都能清楚地看到MLL基因易位涉及的染色体。结论:为了给出准确的诊断,在检测11q23/MLL重排时需要进行常规细胞遗传学和间期FISH测定并结合两者结果来评定,必要时需做R显带后FISH或进一步的分子生物学分析。This study was aimed to compare the values of conventional cytogenetics （CC） , interphase FISH and sequential R-banding and FISH analysis as methods for detecting MLL gene rearrangements. 37 acute leukemia patients were studied by CC and interphase FISH. The results showed that among them, 10 cases were 11 q23^＋/MLL^＋ , 2 cases werellq23^-/MLL^＋（5.4%）, 3 cases were IIIq23^＋/MLL^-（8.1%） and 22 cases were IIq23^-/MLL^-. For some patients, different results were obtained by using CC and interphase FISH for detecting 11q23/MLL gene rearrangements. After sequential R-banding and FISH analysis for 6 patients, the chromosome related to MLL gene translocation was seen clearly in karyotypes and FISH image. It is concluded that for accurate diagnosis both CC and FISH are needed for detecting 11 q23/MLL gene rearrangements, and evaluation is needed in combination of these two results. When necessary, it needs to do sequential R-banding and FISH or molecular analysis.

关 键 词：常规细胞遗传学 荧光原位杂交 连续R显带后FISH MLL基因重排 

分 类 号：R733.7[医药卫生—肿瘤] Q343[医药卫生—临床医学]