Abstract
Osteosarcoma (OS) is a rare bone malignant tumour with a poor prognosis in the case of recurrence. So far, there is no agreement on the best systemic therapy for relapsed OS. The availability of next generation sequencing techniques has recently revolutionized clinical research. The sequencing of the tumour and its matched normal counterpart has the potential to reveal a wide landscape of genetic alterations with significant implications for clinical practice. The knowledge that the genomic profile of a patient’s tumour can be precisely mapped and matched to a targeted therapy in real time has improved the development of precision medicine trials (PMTs). PMTs aiming at determining the effectiveness of targeted therapies could be advantageous for patients with a tumour refractory to standard therapies. Development of PMTs for relapsed OS is largely encouraging and is in its initial phase. Assessing OS features, such as its rarity, its age distribution, the technical issues related to the bone tissue origin, and its complex genomic landscape, represents a real challenge for PMTs development. In this light, a multidisciplinary approach is required to fully exploit the potential of precision medicine for OS patients.
Highlights
Osteosarcoma (OS) is a rare mesenchymal tumour [1] and the most common primary malignant bone tumour in adolescents and young adults [2]
This low enrolment rate is due to some challenges that prevent us from fully exploiting the beneficial impact of precision medicine trials (PMTs) on OS patient quality of life
High levels of chromosome structural variations (SV), elevated somatic copy number alterations (SCNA), and rearrangements resulting from chromothripsis, as well as the hypermutated chromosomal region known as kataegis, are characteristics of OS
Summary
Osteosarcoma (OS) is a rare mesenchymal tumour [1] and the most common primary malignant bone tumour in adolescents and young adults [2]. NGS approaches include whole genome sequencing, exome sequencing, transcriptome sequencing, and RNA sequencing [8,9] These methodologies have facilitated the analysis of genomic profiles in cancer patients improving our understanding of the disease [7,9]. NGS allows the identification of tumour specific aberrations with the potential either to discover new prognostic biomarkers or to offer potential information for new personalized treatments, improving the precision medicine concept especially for patients with a relapsed/refractory disease [7,10]. It is widely accepted that OS patients may benefit from a deep comprehensive molecular genomic sequencing approach [3,13]. This kind of treatment approach is in its infancy, and there are several obstacles to overcome for OS patients as described below
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