Institute of Biomolecular Chemistry, National Research Council, Sassari, Italy.
Cell Death Dis. 2012 Jan 19;3(1):e259. doi: 10.1038/cddis.2011.136.
Poor data have been previously reported about the mutation rates in K-RAS, BRAF, and PIK3CA genes among patients with hepatocellular carcinoma (HCC). Here we further elucidated the role of these genes in pathogenesis of primary hepatic malignancies. Archival tumour tissue from 65 HCC patients originating from South Italy were screened for mutations in these candidate genes by direct sequencing. Overall, oncogenic mutations were detected in 15 (23%) patients for BRAF gene, 18 (28%) for PIK3CA gene, and 1 (2%) for K-RAS gene. Using statistical analysis, BRAF mutations were significantly correlated with the presence of either multiple HCC nodules (P=0.021) or higher proliferation rates (P=0.034). Although further extensive screenings are awaited in HCC patients among different populations, our findings clearly indicated that mutational activation of both BRAF and PIK3CA genes does contribute to hepatocellular tumorigenesis at somatic level in Southern Italian population.
先前有报道称，在来自意大利南部的 65 名 HCC 患者的存档肿瘤组织中，通过直接测序筛选这些候选基因中的突变。总的来说，在 15 名（23%）患者中检测到 BRAF 基因突变，18 名（28%）患者 PIK3CA 基因突变，1 名（2%）患者 K-RAS 基因突变。通过统计学分析，BRAF 突变与多个 HCC 结节的存在（P=0.021）或更高的增殖率（P=0.034）显著相关。尽管在不同人群的 HCC 患者中还需要进一步的广泛筛查，但我们的研究结果清楚地表明，BRAF 和 PIK3CA 基因的突变激活确实有助于意大利南部人群的肝细胞肿瘤发生。
