Molecular analysis of the t(2;8)/MYC-IGK translocation in high-grade lymphoma/leukemia by long-distance inverse PCR
Molecular analysis of the t(2;8)/MYC-IGK translocation in high-grade lymphoma/leukemia by long-distance inverse PCR
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DOI：
10.1002/gcc.21915
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发表时间：
2012-03-01
影响因子：
3.7
通讯作者：
Burmeister, Thomas
中科院分区：
文献类型：
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作者：
Kroenlein, Hannes;Schwartz, Stefan;Burmeister, Thomas
伯基特淋巴瘤和弥漫性大B细胞淋巴瘤的一个子集的特征是染色体改变影响8 q24上的MYC癌基因。在大多数情况下，发现MYC与免疫球蛋白重链（IGH）基因座并列。在约510%的病例中观察到2 p11上免疫球蛋白κ（IGK）基因位点的易位。关于导致这种畸变的分子机制的数据很少。8号染色体上的染色体断裂点分布在MYC的3'端。为了更好地了解这种染色体易位，我们开发了一种长距离反向（LDI）PCR方法，用于鉴定影响IGK位点的染色体易位。我们研究了一些细胞遗传学上大多未表征的高级别淋巴瘤样本，并在7名患者和3个t（2;8）阳性细胞系中鉴定了MYCIGK并置。对染色体断裂点进行了分子表征和分析。8号染色体上的断裂点与MYC的线性距离从大约100 bp到大于0.5 MB不等。在大多数情况下，相互易位的等位基因可以被表征。这项研究代表了迄今为止分析的最大的t（2;8）阳性病例系列。这里开发的LDI-PCR方法也应该是有用的染色体易位影响IGK基因座的分析一般。(c)2011 Wiley Periodicals，Inc.
Burkitt lymphoma and a subset of diffuse large B-cell lymphomas are characterized by chromosomal alterations affecting the MYC oncogene on 8q24. In most cases MYC is found juxtaposed to the immunoglobulin heavy chain (IGH) gene locus. Translocations to the immunoglobulin kappa (IGK) gene locus on 2p11 are observed in around 510% of cases. Little data exist on the molecular mechanisms leading to this aberration. The chromosomal breakpoints on chromosome 8 have been found dispersed over a large area 3' of MYC. In order to obtain a better understanding of this chromosomal translocation we developed a long-distance inverse (LDI) PCR method for the identification of chromosomal translocations affecting the IGK locus. We investigated a number of cytogenetically mostly uncharacterized high-grade lymphoma samples and identified a MYCIGK juxtaposition in seven patients and three t(2;8)-positive cell lines. The chromosomal breakpoints were molecularly characterized and analyzed. The linear distance of the breakpoints on chromosome 8 to MYC ranged from some 100 bp to more than 0.5 MB. The reciprocal translocated allele could be characterized in the majority of cases. This study represents the largest series of t(2;8)-positive cases analyzed so far. The LDI PCR method developed here should also be useful for the analysis of chromosomal translocations affecting the IGK locus in general. (c) 2011 Wiley Periodicals, Inc.