Fusion genes and rearranged genes as a linear function of chromosome aberrations in cancer
Fusion genes and rearranged genes as a linear function of chromosome aberrations in cancer
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DOI：
10.1038/ng1335
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发表时间：
2004-04-01
期刊：
影响因子：
30.8
通讯作者：
Mertens, F
中科院分区：
文献类型：
--
作者：
Mitelman, F;Johansson, B;Mertens, F
据报道，在45,000例人类肿瘤中存在细胞遗传学畸变。结构平衡重排与不同的肿瘤亚型相关，具有显著的特异性，并且对于识别参与肿瘤发生的基因至关重要（1,2）。所有平衡重排的分子特征都是通过在一个断点上解除对基因的调节或通过产生融合基因来发挥作用（3-6）。由于在血液学疾病中发现了大多数复发性畸变和重排基因，而在实体瘤中发现了许多基因组失衡（7,8），因此人们普遍认为这些肿瘤之间存在病理差异。我们在这里表明，在每一种肿瘤类型中，反复出现的平衡染色体异常、融合基因和由于平衡畸变而重排的基因的数量仅仅是核型异常病例数量的函数。因此，在肿瘤发生的遗传机制中可能没有任何基本的组织特异性差异。
Cytogenetic aberrations have been reported in 45,000 human neoplasms. Structural balanced rearrangements are associated with distinct tumor subtypes with remarkable specificity and have been essential for identifying genes involved in tumorigenesis(1,2). All balanced rearrangements that have been characterized molecularly act by deregulating a gene in one of the breakpoints or by creating a fusion gene(3-6). Because most recurrent aberrations and rearranged genes have been found in hematological disorders, whereas numerous genomic imbalances have been identified in solid tumors(7,8), it has become generally accepted that there are pathogenetic differences between these neoplasms. We here show that in every tumor type, the numbers of recurrent balanced chromosome abnormalities, fusion genes and genes rearranged as a consequence of balanced aberrations are simply a function of the number of cases with an abnormal karyotype. Hence, there may not be any fundamental tissue-specific differences in the genetic mechanisms by which neoplasia is initiated.