Dialog Box


Multiple breakthroughs in childhood brain cancer

DIPG cells


Four teams of researchers have been looking into Diffuse Intrinsic Pontine Glioma (DIPG), which is an aggressive but rare brain tumour, primarily affecting children, which grows in the brain stem and is therefore very hard to treat.


The studies all involved researchers from around the world and are great examples of the kind of international collaboration Cure Brain Cancer Foundation supports to accelerate the development of new treatments. Australian tumour samples were also used in the research. Australian bio banking processes are world-class and therefore tissue from them is often requested for use in international research projects.


From funding to research, DIPG has had a lot of attention this week, with President Obama signing the Gabriella Miller Kids First Research Act, dedicating millions of dollars to paediatric medical research, named in honour of 10 year old Gabriella Miller who died from DIPG.



Three subgroups of DIPG identified


A study led by the Hospital for Sick Children in Toronto, Canada, has uncovered genetic drivers behind DIPG and identified three distinct sub-groups of the disease (H3-K27M, silent and MYCN).


They have shown that there are different genes driving the behaviour of all three subtypes of DIPG, meaning that each subgroup requires different treatments.


They also found a new recurrent mutation affecting the activin receptor gene ACVR1, which has never been implicated in cancer before. 



“We found that there are actually different genes driving the behaviour of each DIPG subgroup, which has key implications for the design of appropriate and more targeted therapy for these tumours.”

-  Dr. Cynthia Hawkins, Principal Investigator



This study was published in the journal Nature Genetics and involved DIPG samples from Australia, as well as Canada, the United States and the United Kingdom.


The researchers are now looking at what therapies might work on each individual DIPG subgroup.



Genetic link between DIPG and congenital developmental disorder


A project led by scientists at the Institute of Cancer Research in London has found a genetic crossover between DIPG and another childhood disease.


They too identified recurrent activating mutations in the ACVR1 gene. In fact, they found a high frequency of genetic faults cropping up in a precise portion of ACRV1 that had not previously been linked to DIPG.


But strikingly, they also found that these mutations are identical to mutations found in people with the congenital childhood developmental disorder fibrodysplasia ossificans progressiva (FOP).


This is good news for DIPG because thanks to research into FOP there are already potential drugs being developed to target the faulty ACVR1 gene. In the future, once the role it plays in DIPG is better understood, there is the chance that these drugs could be repurposed for use on DIPG.



“When you think that the human genome – the complete set of genetic information found in our cells – is over 3 billion letters in length, finding that the same few spelling mistakes are shared between two rare and drastically different diseases is remarkable”

- Dr Chris Jones, Institute of Cancer Research



Their study was also published in the journal Nature Genetics.


Scientists from Dana Farber/Boston Children’s and Blood Disorders Centre have also published a study in Nature Genetics linking ACVR1 mutations to DIPG, identifying potential new targets for drug treatments. 


And the fourth study published was by researchers at St Jude Children’s Research Hospital-Washington University Pediatric Cancer Genome Project, which notes that mutations often differ based on the patient’s age. DIPGs usually occur in children aged 5 to 10. The research team have found ACVR1 mutations occurred most often in younger-than-average patients. You can read this study Nature Genetics too.  



“This study provides striking new evidence of how high-grade gliomas differ not only between adults and children, but also between older and younger children” 

- Suzanne Baker, PhD, of St. Jude Developmental Neurobiology.



These studies demonstrate how significant an impact international collaboration can have on understanding brain cancer. All these studies involved international collaboration and used tumour samples from biobanks around the world, including Australia. Furthermore, finding a genetic link between two different childhood diseases means that these two research areas can now work together to share knowledge and help each other develop new potential treatments. This is why collaboration is a key plank of Cure Brain Cancer’s Research Strategy.


But brain cancer research requires funding. While breakthroughs like these are promising, the sad fact is that brain cancer still kills more children in Australia than any other disease.


The Gabriella Miller Kids First Research Act is welcome news for researchers and patients in the US. The bill will divert $126 million dollars of funding to medical research into paediatric brain tumours and other childhood diseases. Click here to watch President Obama signing the Act, alongside Gabriella’s family at the White House. 


Gabriella was a good friend of Erin Griffin from Adelaide, who also has DIPG and is campaigning to raise awareness and funds for research here in Australia. Watch Erin’s story about her fight for kids.


Only a few weeks ago, Senator Catryna Bilyk (Labour Senator for Tasmania) called for a new model of funding for cancer in Australia that puts our kids first. 


Cure Brain Cancer Foundation is continuing to engage with government at all levels to fund medical research and coordination of care for brain cancer patients.


You can help drive the cure for childhood brain cancer by donating!