Abstract:
Recent advancements in understanding clear cell renal cell carcinoma (ccRCC) have underscored the critical role of the BAP1 gene in its pathogenesis and prognosis. While the von Hippel-Lindau (VHL) mutation has been extensively studied, emerging evidence suggests that mutations in BAP1 and other genes significantly impact patient outcomes. Radiogenomics with and without texture analysis based on CT imaging holds promise in predicting BAP1 mutation status and overall survival outcomes. However, prospective studies with larger cohorts and standardized imaging protocols are needed to validate these findings and translate them into clinical practice effectively, paving the way for personalized treatment strategies in ccRCC. This review aims to summarize the current knowledge on the role of BAP1 mutation in ccRCC pathogenesis and prognosis, as well as the potential of radiogenomics in predicting mutation status and clinical outcomes.
摘要:
了解透明细胞肾细胞癌(ccRCC)的最新进展强调了BAP1基因在其发病机理和预后中的关键作用。虽然vonHippel-Lindau(VHL)突变已经被广泛研究,新出现的证据表明,BAP1和其他基因的突变显著影响患者的预后.有和没有基于CT成像的纹理分析的放射基因组学在预测BAP1突变状态和总体生存结果方面具有希望。然而,需要进行更大队列和标准化成像方案的前瞻性研究,以验证这些发现并将其有效转化为临床实践,为ccRCC的个性化治疗策略铺平了道路。本文就BAP1突变在ccRCC发病机制及预后中的作用进行综述。以及放射基因组学在预测突变状态和临床结局方面的潜力。