肾细胞癌：基因组景观和临床意义

IF 1 Q4 PHARMACOLOGY & PHARMACY

Expert Review of Precision Medicine and Drug Development Pub Date : 2020-02-24 DOI:10.1080/23808993.2020.1733407

G. Aurilio, M. Santoni, A. Cimadamore, F. Massari, M. Scarpelli, A. López-Beltran, Liang Cheng, N. Battelli, F. Nolè, R. Montironi

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引用次数: 1

摘要

导读:肾细胞癌(RCC)的精准医疗之路对全球泌尿肿瘤学家来说仍然充满挑战。这主要与这种肿瘤的基因组景观的高度复杂性有关。涵盖领域:在这篇综述中，我们重点介绍了RCC基因组情景及其临床和预后意义的最新进展。特别是，我们描述的主要基因改变，发生在RCC的发展和进展。为此，我们广泛分析了Pubmed档案中关于这一领域的现有文献。专家评论:总结所有可用的数据，并单独考虑每个假定的生物标志物，我们认为BAP1, PBMR1和SETD2基因的改变与RCC患者的预后之间存在一定的相关性。然而，除了这种个体分析之外，RCC的突变情况似乎更加复杂。RCC的发展将通过新兴实验室技术的优化以及这些方法在日常临床实践和随机试验背景下的逐步整合。

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Renal Cell Carcinoma: genomic landscape and clinical implications

ABSTRACT Introduction: The route to precision medicine in Renal Cell Carcinoma (RCC) is still full of challenges for worldwide uro-oncologists. This is mainly related to the high complexity of the genomic landscape of this tumor. Area covered: In this review, we focused on the most recent advances on RCC genomic scenario and its clinical and prognostic implications. In particular, we describe the main gene alterations that occur during RCC development and progression. At this purpose, we extensively analyzed the available literature from Pubmed archives on this field. Expert commentary: Summarizing all available data and taking separately each putative biomarker illustrated, we feel to conclude that there is a certain correlation between the alterations occurring in BAP1, PBMR1, and SETD2 genes and the prognosis of RCC patients. However, apart from this individual analysis, the mutational scenario in RCC seems to be even more intricate. The evolution of RCC will pass through the optimization of emerging laboratory techniques and to a progressive integration of these methodologies within daily clinical practice and in the context of randomized trials.

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来源期刊

Expert Review of Precision Medicine and Drug Development PHARMACOLOGY & PHARMACY-

CiteScore

2.30

自引率

0.00%

发文量

期刊介绍： Expert Review of Precision Medicine and Drug Development publishes primarily review articles covering the development and clinical application of medicine to be used in a personalized therapy setting; in addition, the journal also publishes original research and commentary-style articles. In an era where medicine is recognizing that a one-size-fits-all approach is not always appropriate, it has become necessary to identify patients responsive to treatments and treat patient populations using a tailored approach. Areas covered include: Development and application of drugs targeted to specific genotypes and populations, as well as advanced diagnostic technologies and significant biomarkers that aid in this. Clinical trials and case studies within personalized therapy and drug development. Screening, prediction and prevention of disease, prediction of adverse events, treatment monitoring, effects of metabolomics and microbiomics on treatment. Secondary population research, genome-wide association studies, disease–gene association studies, personal genome technologies. Ethical and cost–benefit issues, the impact to healthcare and business infrastructure, and regulatory issues.