Predictive and prognostic transcriptomic biomarkers in soft tissue sarcomas.
Predictive and prognostic transcriptomic biomarkers in soft tissue sarcomas.
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软组织肉瘤的预测和预后转录组生物标记物
DOI：
10.1038/s41698-021-00157-4
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发表时间：
2021-03-05
影响因子：
7.9
通讯作者：
Huang PH
中科院分区：
文献类型：
--
作者：
Merry E;Thway K;Jones RL;Huang PH
软组织肉瘤（STS）是一种罕见的异质性肿瘤，包括80多种不同的组织学亚型。在切除局部疾病后复发率高的晚期STS中，治疗选择仍然有限。临床实践中的预后主要依赖于组织学分级系统以及肉瘤的x线图。基因表达谱技术的快速发展为在肉瘤中的应用提供了机会。肉瘤的分子谱分析提高了我们对这些罕见癌症的癌症生物学的理解，并确定了潜在的新治疗靶点。特别是，转录组特征可以在肉瘤的风险分类中发挥作用，以帮助预后。与其他实体和血液系统恶性肿瘤不同，转录组特征尚未在肉瘤中达到常规临床应用。在此，我们评估了肉瘤中基因表达谱的早期发展，这为转录组特征的发展奠定了基础。我们讨论了肉瘤关键转录组生物标志物特征的发展和临床评估，包括肉瘤复杂性指数（CINSARC）、基因组分级指数和缺氧相关特征。需要对这些转录组特征进行前瞻性验证，并且正在进行前瞻性试验以评估临床应用的可靠性。我们预计，将这些基因表达特征与现有的预后指标和其他组学方法（包括蛋白质组学和DNA甲基化分析）结合起来，可以提高对“高风险”患者的识别，这些患者将受益于更积极或选择性的治疗策略。展望未来，将这些转录组预后特征纳入临床实践无疑将推进精准医学在肉瘤患者常规临床管理中的应用。
Soft tissue sarcomas (STS) are rare and heterogeneous tumours comprising over 80 different histological subtypes. Treatment options remain limited in advanced STS with high rates of recurrence following resection of localised disease. Prognostication in clinical practice relies predominantly on histological grading systems as well as sarcoma nomograms. Rapid developments in gene expression profiling technologies presented opportunities for applications in sarcoma. Molecular profiling of sarcomas has improved our understanding of the cancer biology of these rare cancers and identified potential novel therapeutic targets. In particular, transcriptomic signatures could play a role in risk classification in sarcoma to aid prognostication. Unlike other solid and haematological malignancies, transcriptomic signatures have not yet reached routine clinical use in sarcomas. Herein, we evaluate early developments in gene expression profiling in sarcomas that laid the foundations for transcriptomic signature development. We discuss the development and clinical evaluation of key transcriptomic biomarker signatures in sarcomas, including Complexity INdex in SARComas (CINSARC), Genomic Grade Index, and hypoxia-associated signatures. Prospective validation of these transcriptomic signatures is required, and prospective trials are in progress to evaluate reliability for clinical application. We anticipate that integration of these gene expression signatures alongside existing prognosticators and other Omics methodologies, including proteomics and DNA methylation analysis, could improve the identification of ‘high-risk’ patients who would benefit from more aggressive or selective treatment strategies. Moving forward, the incorporation of these transcriptomic prognostication signatures in clinical practice will undoubtedly advance precision medicine in the routine clinical management of sarcoma patients.
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影响因子：
8.8
作者：
Bertucci, F.;Finetti, P.;Ostrowski, J.;Kim, W. K.;Kim, H.;Pantaleo, M. A.;Astolfi, A.;Polkowski, M.;Birnbaum, D.
通讯作者：
Birnbaum, D.
影响因子：
2.6
作者：
Burghaus, Stefanie;Halmen, Sonja;Thiel, Falk C.
通讯作者：
Thiel, Falk C.
影响因子：
7.2
作者：
Bertucci, Francois;Finetti, Pascal;Mamessier, Emilie
通讯作者：
Mamessier, Emilie
影响因子：
82.9
作者：
Chibon, Frederic;Lagarde, Pauline;Aurias, Alain
通讯作者：
Aurias, Alain
影响因子：
50.5
作者：
Bertucci, F.;De Nonneville, A.;Birnbaum, D.
通讯作者：
Birnbaum, D.