Researchers uncover a key driver of aggressive bone cancer

New research using data from the 100,000 Genomes Project has identified a genetic change that drives osteosarcoma – an aggressive childhood bone cancer. This research provides insights that could improve our approaches to diagnosis and treatment, as well as helping to better predict patient outcomes.

What is osteosarcoma?

Osteosarcoma is a rare but aggressive form of bone cancer, most commonly occurring in children and young adults.

Though survival rates for osteosarcoma are typically high, they can decrease significantly if the cancer spreads to different tissues or other bones in the body.

As a result, treatment for osteosarcoma often requires surgery or amputation, having a significant impact on young people and their families.

Research to better understand what drives osteosarcoma could help us to improve our approaches to diagnosis and treatment, helping to provide better outcomes for patients and their families.

Genetic drivers of osteosarcoma

The genetic causes of osteosarcoma are known to be complicated.

This has made it difficult for scientists so far to identify which genetic changes drive the cancer, in turn, delaying significant advances in treatment.

A recent study by Espejo Valle-Inclan and colleagues analysed data from participants with osteosarcoma in the 100,000 Genomes Project. The research identified a key genetic driver in aggressive osteosarcoma, helping to advance our understanding of the cancer.

What did the study do?

Published in Cell, the study was a collaboration between Genomics England, EMBL’s European Bioinformatics Institute, University College London, and the Royal National Orthopaedic Hospital.

The research used whole genome sequencing data to identify a new type of genetic change that is present in around half of high-grade (aggressive) osteosarcoma cases, but very rarely in other cancer types.

This finding may help us to better understand what makes osteosarcoma such an aggressive form of cancer, in turn providing valuable information for our approaches.

What is whole genome sequencing?

Whole genome sequencing is a technique that allows us look at someone’s entire genetic code with one single test. Where traditional methods look at particular sections of the genome, whole genome sequencing aims to read the entire thing.

The first full human genome sequence was generated in 2003 under the Human Genome Project. It took over 10 years and a global network of researchers to do it. Since then, methods have become increasingly quick, and we can now sequence an entire genome in just one day.

The research here demonstrates the value of large-scale genomic data in helping us to understand the complex genetic changes that underpin cancer.

Predicting development of bone cancer

Despite our advances in genomics, predicting how cancer develops in patients is still a major challenge.

As part of this study, the team found a new biological sign in cancer cells, known as loss of heterozygosity (LOH), that can help to predict how the patient’s osteosarcoma is likely to develop.

The researchers found that a high degree of LOH across the genome predicts a lower probability of survival, helping to guide decisions on treatment approaches, according to the needs of each individual patients.

Discoveries such as this are vital to build our understanding of what drives osteosarcoma, and with time, could lead to better treatment options and outcomes for patients.