Osteosarcoma's genetic landscape painted by genes' mutations.

IF 1.4 4区生物学 Q4 BIOCHEMISTRY & MOLECULAR BIOLOGY

Acta biochimica Polonica Pub Date : 2023-09-17 DOI:10.18388/abp.2020_6869

Wiktoria Urban, Dagmara Krzystańska, Michał Piekarz, Jerzy Nazar, Anna Jankowska

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引用次数: 0

Abstract

Purpose: 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.

Methods: 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).

Results and conclusions: 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.

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基因突变描绘了骨肉瘤的遗传景观。

目的：骨肉瘤是最常见的原发性骨肿瘤之一。直接发病机制尚不清楚，然而，基因突变已被证明参与了这一过程。这项研究旨在检测OS中最常见的突变基因，以指定癌症标志物的候选。方法：使用COSMIC目录选择20个最常见的突变基因，得出最新的遗传OS景观总结。这些基因可分为四类：抑制基因（TP53、RB1、NCOR1、SMAD2、NF1、TSC2、KMT2C）、原癌基因（GNAS、BRAF、MLLT3）、，表观遗传学和翻译后修饰相关基因（SMARCA4、ARID1A、ATRX、BCOR、H3F3A）和细胞生长和存活调节基因（EGFR、CAMTA1、LRP1B、PDE4DIP、MED12）。研究结果表明，对选定基因突变的检查可能有助于确定患者的OS发展倾向，以及监测疾病进展和确定预后。然而，要全面了解OS的发病机制，还需要进一步的研究。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Acta biochimica Polonica 生物-生化与分子生物学

CiteScore

2.40

自引率

0.00%

发文量

审稿时长

4-8 weeks

期刊介绍： Acta Biochimica Polonica is a journal covering enzymology and metabolism, membranes and bioenergetics, gene structure and expression, protein, nucleic acid and carbohydrate structure and metabolism.