Osteosarcoma’s genetic landscape painted by genes’ mutations

  • Wiktoria Urban Department of Cell Biology, Poznan University of Medical Sciences, Poznań, Poland https://orcid.org/0000-0002-1009-5416
  • Dagmara Krzystańska Department of Cell Biology, Poznan University of Medical Sciences, Poznań, Poland
  • Michał Piekarz Department of Orthopaedics and Traumatology of Locomotor System, Heliodor Swiecicki Clinical Hospital in Poznan, Poznan University of Medical Sciences, Poznań, Poland
  • Jerzy Nazar Department of Orthopaedics and Traumatology of Locomotor System, Heliodor Swiecicki Clinical Hospital in Poznan, Poznan University of Medical Sciences, Poznań, Poland
  • Anna Jankowska Department of Cell Biology, Poznan University of Medical Sciences, Poznań, Poland
DOI: https://doi.org/10.18388/abp.2020_6869

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.

Author Biographies

Wiktoria Urban, Department of Cell Biology, Poznan University of Medical Sciences, Poznań, Poland

 

 

Dagmara Krzystańska, Department of Cell Biology, Poznan University of Medical Sciences, Poznań, Poland

 

 

Michał Piekarz, Department of Orthopaedics and Traumatology of Locomotor System, Heliodor Swiecicki Clinical Hospital in Poznan, Poznan University of Medical Sciences, Poznań, Poland

 

 

Jerzy Nazar, Department of Orthopaedics and Traumatology of Locomotor System, Heliodor Swiecicki Clinical Hospital in Poznan, Poznan University of Medical Sciences, Poznań, Poland

 

 

Anna Jankowska, Department of Cell Biology, Poznan University of Medical Sciences, Poznań, Poland

 

 

Published
2023-09-17
Issue
Vol. 70 No. 3 (2023)
Section
Articles

Copyright (c) 2023 Wiktoria Urban, Dagmara Krzystańska, Michał Piekarz, Jerzy Nazar, Anna Jankowska

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