骨肉瘤的遗传构架由基因突变着色。
Osteosarcoma's genetic landscape painted by genes' mutations.
发表日期:2023 Sep 17
作者:
Wiktoria Urban, Dagmara Krzystańska, Michał Piekarz, Jerzy Nazar, Anna Jankowska
来源:
Epigenetics & Chromatin
摘要:
骨肉瘤(OS)是最常见的原发性骨肿瘤之一。虽然直接的发病机制尚不清楚,但基因突变已被证明参与了这一过程。本研究旨在检查OS中最常突变的基因,以确定癌症标志物的候选人。利用COSMIC目录,选择了最常突变的20个基因,从而得到了最新的遗传OS发展情况的总结。这些基因可以分为四类:抑制基因(TP53、RB1、NCOR1、SMAD2、NF1、TSC2、KMT2C)、原癌基因(GNAS、BRAF、MLLT3)、表观遗传和后转录修饰相关基因(SMARCA4、ARID1A、ATRX、BCOR、H3F3A)以及细胞生长和存活调节基因(EGFR、CAMTA1、LRP1B、PDE4DIP、MED12)。通过对先前已发表的文章进行分析,证实了它们在癌症发生中的作用。研究结果表明,检查选定基因的突变可能有助于鉴定患者对OS发展的易感性,监测疾病进展,并建立预后。然而,要全面了解OS的发病机制,还需要进一步的研究。
Osteosarcoma (OS) is one of the most common primary bone tumors. Direct pathogenesis remains unknown, however, genes' mutations are proven to participate in the process. This study aimed to examine the most frequently mutated genes in OS to appoint candidates for the cancer markers.Using the COSMIC Catalogue twenty the most frequently mutated genes were selected leading to an up-to-date genetic OS landscape summary. The genes can be classified into four categories: suppressor genes (TP53, RB1, NCOR1, SMAD2, NF1, TSC2, KMT2C), proto-oncogenes (GNAS, BRAF, MLLT3), epigenetic and post-translational modification-related genes (SMARCA4, ARID1A, ATRX, BCOR, H3F3A) and cell growth and survival regulating genes (EGFR, CAMTA1, LRP1B, PDE4DIP, MED12).Their role in cancerogenesis was confirmed by the analysis of available articles published previously. The results of the study indicate that examination of selected genes' mutations might help to identify patients' predisposition to OS development, as well as monitor the disease progression, and establish prognosis. However, to fully understand the pathogenesis of OS further studies are required.