Institute of Pathology, University Hospital Erlangen, 91054, Erlangen, Germany.
J Pathol. 2013 Aug;230(4):453-6. doi: 10.1002/path.4208.
Recently mutations in the MED12 gene have been reported in 5.4% of prostate tumours from Caucasian patients analysed by exome sequencing (Barbieri CE, Baca SC, Lawrence MS, et al. Exome sequencing identifies recurrent SPOP, FOXA1 and MED12 mutations in prostate cancer. Nature Genet 2012; 44: 685-689). In more than 70% of prostate tumours with MED12 mutation, a recurrent p.L1224F mutation in exon 26 was found. In order to validate this MED12 p.L1224F mutation, an unselected cohort of prostate tumours from Caucasian patients was analysed by Sanger sequencing. Overall, 223 prostate tumours and three lymph node metastases were analysed. The MED12 p.L1224F mutation could not be detected in any of the cases. So far, the recently reported MED12 p.L1224F mutation could not be validated in our unselected cohort of prostate tumours. Contrary to the findings of Barbieri et al, our data indicate either that the p.L1224F mutation in the MED12 gene plays no role in prostate carcinogenesis or that this alteration is only relevant in a small subgroup of tumours.
最近，通过外显子组测序分析，在 5.4%的白种人前列腺肿瘤中发现了 MED12 基因突变（Barbieri CE、Baca SC、Lawrence MS 等人。外显子组测序鉴定出前列腺癌中 SPOP、FOXA1 和 MED12 的反复突变。自然遗传学 2012; 44: 685-689）。在超过 70%的具有 MED12 突变的前列腺肿瘤中，发现了 26 号外显子中反复出现的 p.L1224F 突变。为了验证这一 MED12 p.L1224F 突变，我们通过 Sanger 测序分析了一组未经选择的白种人前列腺肿瘤。总共分析了 223 例前列腺肿瘤和 3 例淋巴结转移。在任何病例中都无法检测到 MED12 p.L1224F 突变。到目前为止，最近报道的 MED12 p.L1224F 突变在我们未选择的前列腺肿瘤队列中无法得到验证。与 Barbieri 等人的研究结果相反，我们的数据表明，MED12 基因中的 p.L1224F 突变要么在前列腺癌发生中不起作用，要么这种改变仅与肿瘤的一小部分有关。
