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肉瘤中的组学科学与精准医学。

Omics sciences and precision medicine in sarcoma.

作者信息

Bonetti G, Donato K, Dhuli K, Gadler M, Benedetti S, Guerri G, Cristofoli F, Generali D, Donofrio C A, Cominetti M, Fioravanti A, Riccio L, Bernini A, Fulcheri E, Cavalca D, Stuppia L, Stuppia L, Gatta V, Cristoni S, Cecchin S, Marceddu G, Bertelli M

机构信息

MAGI'S LAB, Rovereto (TN), Italy.

Department of Pharmaceutical Sciences, University of Perugia, Perugia, Italy.

出版信息

Clin Ter. 2023 Nov-Dec;174(Suppl 2(6)):68-76. doi: 10.7417/CT.2023.2473.

Abstract

BACKGROUND

Sarcomas are a relatively rare but diverse group of cancers that typically develop in the mesenchymal cells of bones and soft tissues. Occurring in more than 70 subtypes, sarcomas have broad histological presentations, posing significant challenges of prognosis and treatment. Modern multi-omics studies, which include genomics, proteomics, metabolomics, and micro-biomics, are vital to understand the underlying mechanisms of sarcoma development and progression, identify molecular biomarkers for early detection, develop personalized treatment plans, and discover drug resistance mechanisms in sarcomas to upsurge the survival rate.

AIM

This study aims to highlight the genetic risk factors responsible for sarcoma-genesis, and to present a comprehensive review of multi-omics studies about sarcoma.

METHODS

Extensive literature research was undertaken using reliable and authentic medical journals, e-books, and online cancer research databases. Mendelian inheritance in man database (OMIM) was explored to study particular genes and their loci that are responsible to cause various sarcomas.

RESULT

This in-depth research led to the finding out that omics studies provide a more comprehensive understanding of underlying molecular mechanisms of sarcomas. Through genomics, we can reveal genetic alterations that predispose to sarcoma, like mutation in TP53, NF1, and so on. Pharmacogenomics enable us to find molecular targets for specific drugs. Whereas, proteomic and metabolomic studies provide insights into the biological pathways involved in sarcoma development and progression.

CONCLUSION

Future advancements in omics sciences for sarcoma are on the cutting-edge of defining precision treatment plans and improved resilience of sarcoma patients.

摘要

背景

肉瘤是一类相对罕见但种类多样的癌症,通常发生于骨骼和软组织的间充质细胞。肉瘤有70多种亚型,具有广泛的组织学表现,给预后和治疗带来了重大挑战。现代多组学研究,包括基因组学、蛋白质组学、代谢组学和微生物组学,对于理解肉瘤发生和发展的潜在机制、识别早期检测的分子生物标志物、制定个性化治疗方案以及发现肉瘤的耐药机制以提高生存率至关重要。

目的

本研究旨在突出导致肉瘤发生的遗传风险因素,并对肉瘤的多组学研究进行全面综述。

方法

使用可靠且权威的医学期刊、电子书和在线癌症研究数据库进行广泛的文献研究。探索人类孟德尔遗传数据库(OMIM)以研究导致各种肉瘤的特定基因及其位点。

结果

这项深入研究发现,组学研究能更全面地理解肉瘤的潜在分子机制。通过基因组学,我们可以揭示易患肉瘤的基因改变,如TP53、NF1等基因的突变。药物基因组学使我们能够找到特定药物的分子靶点。而蛋白质组学和代谢组学研究则为肉瘤发生和发展所涉及的生物途径提供了见解。

结论

肉瘤组学科学的未来进展处于定义精准治疗方案和提高肉瘤患者恢复力的前沿。

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