Corporate Banner
Satellite Banner
Scientific Communities
Become a Member | Sign in
Home>News>This Article

Novel Mutations Define Two Types of Bone Tumour

Published: Thursday, October 31, 2013
Last Updated: Thursday, October 31, 2013
Bookmark and Share
Two related genes underlie the development of two rare bone tumours in nearly 100 per cent of patients.

Scientists have made a rare discovery that allows them to attribute two types of tumour almost entirely to specific mutations that lie in two related genes.

These mutations are found in nearly 100 per cent of patients suffering from two rare bone tumours; chondroblastoma and giant cell tumour of the bone.

Chondroblastoma and giant cell tumour of bone are benign bone tumours that primarily affect adolescents and young adults, respectively. They can be extremely debilitating tumours and recur despite surgery. Occasionally, these tumours can be difficult to differentiate from highly malignant bone cancers. The mutations found in this study may be used for diagnosis of chondroblastoma and giant cell tumour. In addition, the mutations offer a starting point into research for a specific treatment against these tumours.

"This is an exceptional, if not a once in a lifetime discovery for the team," says Dr Peter Campbell, co-lead author of the study from the Wellcome Trust Sanger Institute. "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. Moreover, our findings suggest that these mutations are the key, if not the sole, driving force behind these tumours."

The team sequenced the full genomes of six chondroblastoma tumours and found that all six tumours had mutations in one of two related genes, H3F3A and H3F3B, which produce an identical protein, called histone 3.3.

Extending the study to more chondroblastoma tumours and to other bone tumours, they were able to verify that this mutation was found in almost all cases of chondroblastoma. Interestingly, the team also observed that most cases of a different type of bone tumour, giant cell tumour of bone, have a mutation in the H3F3A gene, albeit in a different position in the gene. A pattern emerged where both tumour types, chondroblastoma and giant cell tumour of bone, are defined by specific histone 3.3 mutations.

The team pinpointed the specificity of these mutations to affecting a single amino acid residue on the histone 3.3 protein; G34W amino acid residue underlies giant cell tumour of the bone and K36M amino acid residue underlies chondroblastoma.

"The high prevalence of these mutations in each tumour type is striking, but what's most remarkable is the unprecedented specificity of these mutations," says Dr Sam Behjati, first author from the Wellcome trust Sanger Institute. "The specificity of the mutations not only informs us about how these tumours develop, but also points to some fundamental function of these genes in normal bone development."

"Our findings will be highly beneficial to clinicians as we now have a diagnostic marker to differentiate chondroblastoma and giant cell tumour of bones from other bone tumours," says Professor Adrienne Flanagan, co-lead author from the Royal National Orthopaedic Hospital, and UCL Cancer Institute. "This study highlights the importance of continuing to sequence all types of human cancer."

"We are also extremely grateful to our patients and collaborators, without their help we would not have been able to study these extremely rare diseases," adds Professor Flanagan.

Further Information

Join For Free

Access to this exclusive content is for Technology Networks Premium members only.

Join Technology Networks Premium for free access to:

  • Exclusive articles
  • Presentations from international conferences
  • Over 3,500+ scientific posters on ePosters
  • More Than 5,200+ scientific videos on LabTube
  • 35 community eNewsletters

Sign In

Forgotten your details? Click Here
If you are not a member you can join here

*Please note: By logging into you agree to accept the use of cookies. To find out more about the cookies we use and how to delete them, see our privacy policy.

Related Content

Genetic Link for Heart Disease Risk Factors Identified
Scientists discover 17 rare human genetic variations linked to diseases such as diabetes and heart disease.
Monday, October 03, 2016
Sanger Institute, St Jude Data-Sharing Agreement
Childhood cancer targeted by Sanger Institute and St Jude Children’s Research Hospital exchanges of cancer data
Tuesday, September 20, 2016
New Rare Congenital Heart Disease Disorders Found in Children
Largest genomic study of heart disease in children reveals inherited genetic roots.
Friday, August 05, 2016
Red Hair Gene Increases Cancer Mutations
Red hair gene variant drives up skin cancer mutations equivalent to that expected from 21 years of sun exposure.
Wednesday, July 13, 2016
Drug Response Predicted by Cancer Cell Lines
Large-scale study could increase success rate of developing personalised cancer treatments.
Monday, July 11, 2016
Strongest Single Gene Conclusively Implicated in Schizophrenia
Research establishes for the first time that single-letter changes to the DNA code of one gene can have such a substantial effect on the risk of schizophrenia.
Monday, March 14, 2016
Periodic Table of Protein Complexes
New tool helps to visualise, understand and predict how proteins combine to drive biological processes.
Monday, December 14, 2015
Normal Skin Accrues High Number of Mutations Associated with Cancer
Researchers used genomic sequencing to gain insights into how somatic mutations build up in normal cells before the onset of cancer, a process that is poorly understood.
Friday, May 22, 2015
Antibiotic Resistant Typhoid Detected in Countries Around the World
Unappreciated global spread of multiple antimicrobial resistant typhoid mapped by international consortium.
Wednesday, May 13, 2015
Genes that Cause Pancreatic Cancer Identified by New Tool
Screening system in mice spots cancerous changes invisible to sequencing.
Thursday, December 11, 2014
Large-scale Study Raises Hopes For Development Of E. coli Vaccine
Global comparison reveals surprisingly close relation between E. coli strains that cause traveller's diarrhoea.
Wednesday, November 12, 2014
Pathway Between Gut and Liver Regulates Bone Mass
Researchers have uncovered a previously unknown biological process involving vitamin B12 and taurine that regulates the production of new bone cells.
Tuesday, June 10, 2014
Atlas Shows How Genes Affect Our Metabolism
New atlas of molecules paves the way for improved understanding of metabolic diseases.
Tuesday, May 13, 2014
Gene Promotes one in a Hundred of Tumours
Gene discovered to play a part in one per cent of all cancers.
Wednesday, December 18, 2013
Stem Cells Could Set Up Future Transplant Therapies
New method for developing stem cells enables production of liver and pancreatic cells in clinically relevant quantities.
Thursday, October 31, 2013
Scientific News
Unravelling the Role of Key Genes and DNA Methylation in Blood Cell Malignancies
Researchers from the University of Nebraska Medical Center have demonstrated the role of Dnmt3a in safeguarding normal haematopoiesis.
Salford Lung Study - The First Real World Clinical Trial
In this podcast, we learn about the Salford Lung Study and its potential to revolutionize the way we assess new drugs and treatments around the world.
Point of Care Diagnostics - A Cautious Revolution
Advances in molecular biology, coupled with the miniaturization and improved sensitivity of assays and devices in general, have enabled a new wave of point-of-care (POC) or “bedside” diagnostics.
Nanomedicine Aims to Improve HIV Drug Therapies
New research aims to improve the administration and availability of drug therapies to HIV patients using nanotechnology.
Tumor Markers Reveal Lethality Of Bladder Cancers
Researchers found that detection of certain tumor cells in early stage cancers helps identify high-risk cancers.
Gene Editing Corrects Sickle Cell Mutation
Researchers demonstrate a potential pathway to developing gene-editing treatments for sickle cell disease.
Driving Mosquito Evolution to Fight Malaria
Researchers propose insect repellent in conjunction with insecticides to extend current insecticide lifetime.
Lab-on-a-Chip to Help Detect Cancer
In this podcast, we speak to Gustavo Stolovitsky to learn about his career and the work he is doing at IBM Research.
ALS Study Reveals Role of RNA-Binding Proteins
The findings are a significant step forward in validating RNA-based therapy as a treatment for ALS.
Observing Direct Inheritance of Gene-Silencing RNA
Research has allowed for the observation of double-stranded RNA molecule being passed from parent to offspring in roundworms.
Scroll Up
Scroll Down
Skyscraper Banner

Skyscraper Banner
Go to LabTube
Go to eposters
Access to the latest scientific news
Exclusive articles
Upload and share your posters on ePosters
Latest presentations and webinars
View a library of 1,800+ scientific and medical posters
3,500+ scientific and medical posters
A library of 2,500+ scientific videos on LabTube
5,200+ scientific videos