Rouzier Cécile, Haudebourg Juliette, Carpentier Xavier, Valério Laure, Amiel Jean, Michiels Jean-François, Pedeutour Florence
Laboratory of Solid Tumors Genetics, Nice University Hospital and CNRS UMR 6543, Faculty of Medicine, 28 avenue de Valombrose, 06107 Nice, France.
Cancer Genet Cytogenet. 2008 May;183(1):21-7. doi: 10.1016/j.cancergencyto.2008.01.021.
The recent identification of fusion genes involving ETS family members in human prostate adenocarcinoma has confirmed the hypothesis that recurrent specific aberrations such as fusion genes may be as frequent in epithelial tumors as they are in leukemias and sarcomas. However, reciprocal translocations with fusion genes are often not detectable in carcinomas by conventional karyotyping because of additional complex chromosomal abnormalities. We retrospectively analyzed a large series of formalin-fixed, paraffin-embedded samples including 55 prostate carcinomas and 11 benign prostate tumors. We identified the fusion gene TMPRSS2-ERG by reverse-transcriptase polymerase chain reaction (RT-PCR) in 40/55 carcinomas (72%). Our study demonstrates that the detection of ETS fusion gene by RT-PCR is feasible on formalin-fixed and paraffin-embedded samples. No significant association between the presence of the fusion gene and any clinical feature, such as preoperative serum prostate-specific antigen (PSA) level (PSA>20 or PSA< or =20), pTNM stage including capsule invasion, seminal vesicle invasion, and lymph nodes metastases, or recurrence was observed in our series.
近期在人类前列腺腺癌中发现涉及ETS家族成员的融合基因，证实了这样一种假说，即像融合基因这样反复出现的特定畸变在上皮性肿瘤中的出现频率可能与在白血病和肉瘤中一样高。然而，由于存在额外复杂的染色体异常，通过传统核型分析通常无法在癌组织中检测到与融合基因相关的相互易位。我们回顾性分析了大量福尔马林固定、石蜡包埋的样本，包括55例前列腺癌和11例良性前列腺肿瘤。我们通过逆转录聚合酶链反应（RT-PCR）在40/55例癌组织（72%）中检测到了融合基因TMPRSS2-ERG。我们的研究表明，通过RT-PCR在福尔马林固定、石蜡包埋的样本中检测ETS融合基因是可行的。在我们的研究系列中，未观察到融合基因的存在与任何临床特征之间存在显著关联，如术前血清前列腺特异性抗原（PSA）水平（PSA>20或PSA≤20）、包括包膜侵犯、精囊侵犯和淋巴结转移的pTNM分期或复发情况。
