DNA discovery links rare teenage bone tumours

In collaboration with the Press Association

The key genetic changes behind two rarebone cancers have been uncovered by UK researchers.

The research gives vital clues into how these tumours develop and could help improve how the cancers are diagnosed.

Researchers from the Wellcome Trust Sanger Institute looked at the genetics of chondroblastoma and giant cell tumours of the bone, both benign tumours that tend to affect teenagers and young adults, respectively.

They found genetic changes in two related genes in the majority of tumours tested.

"This is an exceptional, if not a once in a lifetime discovery for the team," said Dr Peter Campbell, co-lead author of the study.

"What we normally see is that the same mutations occur in many different types of tumour. These mutations, however, are highly specific to these tumours."

The researchers looked at the full genetic code of six chondroblastoma tumours and found that all six tumours had genetic changes in one of two related genes, H3F3A and H3F3B.

Interestingly, both genes produce the same molecule, called histone 3.3.

The team then sequenced a further 71 chondroblastoma tumours and found that a single letter change in the H3F3A or H3F3B genes occured in 95 per cent of the tumours.

The researchers extended their search to other bone tumours and found that 92 per cent of 53 giant cell tumours of the bone also had changes in the H3F3A gene.

This research could help distinguish between these benign tumours and others within bone that are more likely to spread to other parts of the body.

Dr Emma Smith, senior science communication officer at Cancer Research UK said: "Making an accurate diagnosis is important to help get the right treatment to the right patient as quickly as possible, and this exciting research could help doctors distinguish between different types of bone cancers in future.

"The finding that so many of these cancers are caused by mistakes in a particular molecule also has potential for unravelling the mechanisms that drive development of the disease, potentially leading to new ways to treat it in the future. The same faulty molecule has also been found in some childhood brain tumours, so understanding more about how it works could help these children too."

Copyright Press Association 2013


  • Behjati S, et al. (2013). Distinct H3F3A and H3F3B driver mutations define chondroblastoma and giant cell tumor of bone, Nature Genetics, DOI: