Perner Sven, Mosquera Juan-Miguel, Demichelis Francesca, Hofer Matthias D, Paris Pamela L, Simko Jeff, Collins Colin, Bismar Tarek A, Chinnaiyan Arul M, De Marzo Angelo M, Rubin Mark A
Department of Pathology, Brigham and Women's Hospital, Boston, MA 02115-6110, USA.
Am J Surg Pathol. 2007 Jun;31(6):882-8. doi: 10.1097/01.pas.0000213424.38503.aa.
Prostate cancer (PCA) is one of the most prevalent cancers and a major leading cause of morbidity and mortality in the Western world. The TMPRSS2-ERG fusion was recently identified as a common recurrent chromosomal aberration in this malignancy. In our study, we interrogated a broad spectrum of benign, precursor, and malignant prostatic lesions to assess the TMPRSS2-ERG fusion status using a multicolor interphase fluorescence in situ hybridization assay. Samples from hospital-based cohorts consisted of 237 clinically localized PCA, 34 hormone naive metastases, 9 hormone refractory metastases, 26 high grade prostatic intraepithelial neoplasia lesions, 15 samples of benign prostatic hyperplasia, 38 of proliferative inflammatory atrophy, and 47 of benign prostatic tissue. The TMPRSS2-ERG fusion was present in 48.5% of clinically localized PCA, 30% of hormone naive metastases, 33% of hormone refractory metastases, and in 19% of high grade prostatic intraepithelial neoplasia lesions in intermingling to cancer foci. Almost all these fusion positive cases show a homogenous distribution of the fusion pattern. In contrast, none of the other samples harbored this genetic aberration. If we consider the high incidence of PCA and the high frequency of this gene fusion, TMPRSS2-ERG is the most common genetic aberration so far described in human malignancies. Furthermore, its clinical application as a biomarker and ancillary diagnostic test is promising given its high specificity.
前列腺癌（PCA）是最常见的癌症之一，也是西方世界发病和死亡的主要原因。TMPRSS2-ERG融合最近被确定为这种恶性肿瘤中常见的复发性染色体畸变。在我们的研究中，我们使用多色间期荧光原位杂交检测法，对广泛的良性、前驱性和恶性前列腺病变进行检测，以评估TMPRSS2-ERG融合状态。来自医院队列的样本包括237例临床局限性PCA、34例激素初治转移瘤、9例激素难治性转移瘤、26例高级别前列腺上皮内瘤变病变、15例良性前列腺增生样本、38例增殖性炎性萎缩样本和47例良性前列腺组织样本。在临床局限性PCA中，48.5%存在TMPRSS2-ERG融合；在激素初治转移瘤中，30%存在该融合；在激素难治性转移瘤中，33%存在该融合；在与癌灶混合的高级别前列腺上皮内瘤变病变中，19%存在该融合。几乎所有这些融合阳性病例都显示出融合模式的均匀分布。相比之下，其他样本均未携带这种基因畸变。鉴于PCA的高发病率以及该基因融合的高频率，TMPRSS2-ERG是迄今为止人类恶性肿瘤中描述的最常见的基因畸变。此外，鉴于其高特异性，它作为生物标志物和辅助诊断测试的临床应用前景广阔。
