Genetic and molecular profiling in bone sarcomas: advancing personalized treatment approaches

Abstract

Background: Bone sarcomas, a rare group of malignant neoplasms arising from mesenchymal cells, present significant diagnostic and therapeutic challenges due to their heterogeneity and overlapping characteristics with other tumours. Conventional diagnostic methods are often inadequate, necessitating advanced techniques to improve diagnostic accuracy and treatment outcomes. Objectives: This review aims to evaluate the role of genetic and molecular profiling in bone sarcomas, focusing on its potential to develop personalized treatment approaches and overcome therapeutic resistance. Methods: A systematic search was conducted across PubMed and Google Scholar to identify relevant studies published in the last ten years. Inclusion criteria encompassed randomized controlled trials, cohort studies, and systematic reviews investigating genetic and molecular profiling techniques such as RT-PCR, FISH, and NGS in bone sarcomas. Exclusion criteria included studies on soft tissue sarcomas, animal models, and non-peer-reviewed articles. Discussion: Genetic and molecular profiling has revolutionized the diagnosis and management of bone sarcomas by identifying key genetic alterations and enabling targeted therapies. While early clinical data are promising, larger randomized trials are needed to validate these findings. Resistance mechanisms, such as miRNA dysregulation, present ongoing challenges, highlighting the need for combination therapies to optimize treatment outcomes. Integrating genetic and molecular profiling into clinical practice offers the potential for personalized treatment regimens, improving survival rates and quality of life for patients with bone sarcomas. Further research is essential to fully realize the benefits of these advanced techniques.