伯基特白血病的细胞遗传学研究

目的 研究伯基特白血病(Burkitt leukemia,BL)的细胞遗传学特点.方法 采用常规细胞遗传学(conventional cytogenetics,CC)技术检测17例初诊BL的染色体核型异常,同时应用三色间期荧光原位杂交(fluorescence in situ hybridization,FISH)技术检测其中t(8;14)(q24;q32)的发生率,并与CC作比较.结果 17例BL中CC检出7例核型异常,染色体异常发生率为41.2%.包括单纯t(8;14)(q24;q32)、伴有t(8;14)(q24;q32)的复杂异常、t(8;22)(q24;q11)、t(12;22)(?;?)、t(2;13)(?;?)和+12、复杂核型异常及附加两条标记染色体各1例.FISH检测8例为t(8;14)(q24;q32),其中2例检测结果与CC一致,有6例为CC未检出,检测阳性率高于CC;8例中5例为2A1G102F(间期核内两蓝一绿一桔两黄信号),3例为2A1G101F(间期核内两蓝一绿一桔一黄信号).结论 8q24上c-Myc基因断裂点在散发性BL中有两种不同的位置.间期FISH检测t(8;14)(q24;q32)的敏感性高于常规核型分析,对CC是一个重要补充,应作为BL诊断的常规检查手段.

The cytogenetic features of Burkitt leukemia

OBJECTIVE: To evaluate the incidence of chromosomal abnormalities in Burkitt leukemia (BL). METHODS: Conventional cytogenetics (CC) was carried out to detect the karyotypes. Meanwhile, three color interphase fluorescence in situ hybridization (FISH) was used to detect the t(8;14)(q24;q32) in 17 newly diagnosed BL. RESULTS: The results showed that the incidence of chromosomal abnormalities was 41.2% (7/17) by CC technique, including one of each for simple t(8;14)(q24;q32), complex chromosomal abnormality containing t(8;14)(q24;q32), t(8;22)(q24;q11), the complex chromosomal abnormality of t(12;22)(?;?), t(2;13)(?;?) with + 12, and one with two marker chromosomes. FISH method detected eight cases of t(8;14)(q24;q32), including the two detected by CC technique. Five samples (5/8) showed 2A1G1O2F (two blue, one green, one orange and two yellow signals in interphase nuclei), while three samples (3/8) showed 2A1G1O1F(two blue, one green, one orange and one yellow signals in interphase nuclei). CONCLUSION: Two different breakpoints have been identified on the c-Myc locus on 8q24. Interphase FISH was more sensitive in detecting t(8;14)(q24;q32), and it is an important complement to CC. It should be used as a routine method for diagnosis of BL.