ERG rearrangement is specific to prostate cancer and does not occur in any other common tumor.

ERG rearrangement is specific to prostate cancer and does not occur in any other common tumor.
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DOI:
10.1038/modpathol.2010.87
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发表时间:
2010-08
期刊:
Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc
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识别特定的体细胞基因改变对于了解个体癌症类型的发展、进展和临床行为至关重要。最近发现的复发性前列腺癌(PCa)的ERG重排可能代表了PCa的具体改变,尚未系统地评估在肿瘤以外的PCa。本研究的目的是评估ERG重排以及TMPRSS 2和ERG之间的不同缺失位点(两者均主要导致TMPRSS 2-ERG融合)是否发生在PCa以外的肿瘤中。我们通过FISH评估了54种不同肿瘤类型(共2942个样本)的ERG重排状态。为了校准,我们分析了285个PCa样本的ERG重排频率。此外,我们询问了3131个癌症标本(26种肿瘤类型)的高分辨率SNP数据集,以了解拷贝数变化。通过FISH评估的54种不同肿瘤类型中没有一种携带ERG重排,而PCa样本显示31.2%-49.5%的ERG重排,这取决于队列。此外,在通过SNP评估拷贝数改变的26种肿瘤类型中,TMPRSS 2和ERG(21q22.2-3)之间的独特缺失位点仅在PCa中可检测到。虽然尤文氏肉瘤和急性髓细胞白血病有已知的重排很少涉及ERG,我们假设ERG重排以及TMPRSS 2和ERG之间的21q22.2-3上的不同缺失位点是PCa特异性基因组改变。这些观察结果提供了进一步了解PCa的肿瘤发生,并可能是至关重要的发展ERG重排评估作为一种临床工具。
Identification of specific somatic gene alterations is crucial for the insight into the development, progression, and clinical behavior of individual cancer types. The recently discovered recurrent ERG rearrangement in prostate cancer (PCa) might represent a PCa specific alteration that has not been systematically assessed in tumors other than PCa. Aim of this study was to assess, whether the ERG rearrangement and the distinct deletion site between TMPRSS2 and ERG, both predominantly resulting in a TMPRSS2-ERG fusion, occurs in tumors other than PCa. We assessed 54 different tumor types (2942 samples in total) for their ERG rearrangement status by FISH. To calibrate, we analyzed 285 PCa samples for the ERG rearrangement frequency. Additionally, we interrogated a high-resolution SNP data set across 3131 cancer specimens (26 tumor types) for copy number alterations. None of the 54 different tumor types assessed by FISH harbored an ERG rearrangement, whereas the PCa samples revealed an ERG rearrangement in 31.2%–49.5%, depending on the cohort. Furthermore, within the 26 tumor types assessed for copy number alterations by SNP, the distinct deletion site between TMPRSS2 and ERG (21q22.2-3) was detectable exclusively in PCa. Although Ewing's sarcoma and AML have known rearrangements rarely involving ERG, we hypothesize that the ERG rearrangement as well as the distinct deletion site on 21q22.2-3 between TMPRSS2 and ERG, are PCa specific genomic alterations. These observations provide further insight into the oncogenesis of PCa and might be critical for the development of ERG rearrangement assessment as a clinical tool.
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