CHROMOSOMAL BREAKPOINTS AND STRUCTURAL ALTERATIONS OF THE C-MYC LOCUS DIFFER IN ENDEMIC AND SPORADIC FORMS OF BURKITT-LYMPHOMA
CHROMOSOMAL BREAKPOINTS AND STRUCTURAL ALTERATIONS OF THE C-MYC LOCUS DIFFER IN ENDEMIC AND SPORADIC FORMS OF BURKITT-LYMPHOMA
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DOI：
10.1073/pnas.83.9.2984
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发表时间：
1986-05-01
影响因子：
11.1
通讯作者：
DALLAFAVERA, R
中科院分区：
文献类型：
--
作者：
PELICCI, PG;KNOWLES, DM;DALLAFAVERA, R
我们检测了19例Burkitt淋巴瘤新鲜标本和13个细胞系的染色体断裂点相对于人类c-myc基因(MYC)的位置以及同一基因的其他结构改变。该小组包括两种白血病的致病形式：地方性(非洲型)淋巴瘤(EBL)和散发性(美国型)淋巴瘤(SBL)。在所有被测试的病例中，包括新鲜样本和细胞系，都检测到该基因5‘’部分的结构变化，表明它们可能是激活c-myc所必需的。然而，EBL和SBL的染色体断裂点的位置和结构改变的类型不同。在18例SBL病例中，有16例染色体易位导致基因在5‘’区域内截短，该区域包括第一内含子、第一外显子和5‘’侧翼序列。相反，在14个EBL样本中，有14个染色体断裂点位于c-myc基因座之外，但相同的5-序列受到几个可通过限制性内切酶多态鉴定的突变的影响。因此，染色体易位/c-myc激活可能涉及不同的遗传机制，这些差异可能是EBL和SBL分化阶段的不同所致。
We have examined the position of the chromosomal breakpoint relative to the human c-myc gene (MYC) and the presence of other structural alterations of the same locus in 19 fresh samples of Burkitt lymphoma (BL) and 13 BL-derived cell lines. This panel includes the two pathogenetic forms of BL: the endemic (African-type) BL (eBL) and sporadic (American-type) BL (sBL). In all cases tested, including fresh samples and cell lines, structural alterations of the 5'' portion of the gene were detected, suggesting that they may be necessary for c-myc activation. However, the site of chromosomal breakpoint and the type of structural alterations differ in eBL and sBL. In 16 of 18 sBL cases, chromosomal translocation truncates the gene within a 5'' region that includes the first intron, the first exon, and 5'' flanking sequences. Conversely, in 14 of 14 eBL samples, the chromosomal breakpoint is located outside the c-myc locus, yet the same 5-sequences are affected by several mutations identifiable by restriction enzyme polymorphisms. Different genetic mechanisms may therefore be involved in chromosomal translocation/c-myc activation, and these differences may be a function of differences in the stage of differentiation of eBL versus sBL.