They manage to solve the mystery of the genomic rearrangement that causes the development of osteosarcoma tumors
He osteosarcoma It is an aggressive type of bone cancer that affects children and young adults between 10 and 20 years old. The research team of European Molecular Biology Laboratory of the United Kingdom has managed to solve the mystery about the genomic rearrangement that causes the development of these tumors.
It is a cancer that may require surgery or amputation for treatment and has the potential to spread to other organs.
This work, published in ‘Cell’is a collaboration between EMB European Bioinformatics Institute, University College London (UCL), Royal National Orthopedic Hospital and Genomics England R&D Laboratoryall in the United Kingdom.
To carry out the investigationcompleted whole genome data collection in patients who had osteosarcoma and identified a new mutation mechanism, the loss-translocation-amplification (LTA) chromothripsiswhich is present in the 50% of cases. This explains why it is such an aggressive tumor and has genomic instability.
With the study they have also presented a prognostic biomarker which could be used to anticipate disease. Loss of heterozygosity (LOH) in large numbers predicts a lower probability of survival.
Isidro Cortes-Cirianogroup leader at EMBL-EBI and co-lead author of the study, explained that “by studying the genetic anomalies in different regions of each tumor and using new technologies that allow us to read large stretches of DNA, we have been able to understand how they are broken and reorganized.” chromosomes.”
Through the long read sequencing have been able to analyze different regions of each tumor of osteosarcoma, something crucial to identify the mechanism of chromothripsis of LTA and to discover that the rearranged chromosomes continue to acquire abnormalities as the cancer progresses.
On the other hand, they also analyzed whole genome sequencing data from more than 5,300 tumors of different types of cancer and identified that lThe anomalies arise because the affected chromosomes are very unstable.
In this study they have been based on the 100,000 Genomes Projecta pioneering study led by Genomics England and NHS England. With it, they discovered the prevalence of LTA chromothripsis in approximately 50% of high-grade osteosarcomas.
Greg Elgardirector of sequencing R&D at Genomics England, explained: “The research demonstrates what can be achieved when academia, clinical practice and the NHS work together and combine research and development efforts in these three areas.”
