New research involving large-scale patient sample analysis has provided crucial insight into how osteosarcoma develops and progresses.
This important study was made possible thanks to the availability of patient samples, the collection of which was partly facilitated through funding from the Bone Cancer Research Trust.
Since 2017, the charity's Infrastructure Grants have championed the collection of patient samples across bone sarcoma centres in England through dedicated funding.
Osteosarcoma has long been difficult to fully understand due to the complex genetic changes which drive its development. However, recent analysis of samples from different osteosarcoma patient groups (or 'cohorts') has revealed a crucial piece of the missing puzzle.
The team of researchers, led by Dr Isidro Cortés Ciriano at the European Bioinformatics Institute (EMBL-EBI) and Professor Adrienne Flanagan at University College London, analysed the largest collection of genetic data from osteosarcoma patients to investigate the cancer's underlying causes. This vital data was made available thanks to the 100,000 Genomes Project — allowing the team to look for clues across the entire genetic code.
In doing so the team found a crucial mechanism, called the loss-translocation-amplification (LTA) chromothripsis, which causes errors and re-arrangements in the genetic code leading to the aggressive development and progression of osteosarcoma. The team discovered that this mechanism occurred in approximately 50% of high-grade (aggressive) osteosarcoma cases.
The findings, published today in the leading scientific journal Cell, helps to bridge an important gap in our understanding of why osteosarcoma develops.
Members of the research team (left to right: Dr Isidro Cortés Ciriano, Dr Solange DeNoon, Dr Roberto Tirabosco, Dr Fernanda Amery, Dr Jose Espejo Valle-Inclan, Professor Adrienne Flanagan).
Alongside shining a light on the complex biology which leads to an aggressive tumour type, this research also identified an indicator or "prognostic biomarker" which may be used to predict a patient's outcome and the likely course their disease will take, with the hope of moving towards a more personalised approach to treatment.
Professor Adrienne Flanagan, senior co-author of the paper, is a Professor of Musculoskeletal Pathology at University College London and Consultant Histopathologist at the Royal National Orthopaedic Hospital (RNOH). As Principal Investigator for the centre's Infrastructure Grants, she highlighted their importance to the primary bone cancer research landscape:
The BCRT Infrastructure Grants at RNOH have been pivotal in maintaining the Sarcoma Biobank. The samples, collected for more than twenty years, have led to numerous novel discoveries in osteosarcoma, chondrosarcoma, chordoma and more besides, and contributed to patients receiving more accurate diagnoses and tailored treatments.
Dr Victoria Vinader, Head of Research at the Bone Cancer Research Trust, added:
This vital research is only made possible thanks to the availability of blood and tissue samples generously donated by the bone cancer community. Our Infrastructure Grants ensure that more patients and families have the informed choice to contribute towards much-needed advancements and that centres such as RNOH have the facilities, expertise and processes in place to collect, store and share samples for ongoing and future research.
To find out more about this latest research discovery, follow the link below: