The appearance of brain tumours in children is a devastating event. There are hardly any effective treatments currently and average survival time for children after diagnosis is no longer than a year.
This makes it imperative to improve diagnoses and identify the characteristics of each patient’s tumour. More specialised and personalised therapies can then be developed progressively. Brain tumours in children are very different from those that adults develop, and they have a series of biological characteristics that mean they cannot be treated in the same way.
Professor Chris Jones, of the Institute of Cancer Research in London (UK) looks for genetic mutations in brain tumours that are specific to each subtype, especially in some of its most aggressive variants, such as Paediatric High-Grade Glioma. This helps improve understanding of the chain of events that occur inside a cell for it to spiral out of control in the development of the disease. This can improve patient prognosis and help doctors choose the most appropriate therapy.
One of this research group’s most significant projects consists of validating a genetic test for brain tumours for implementation throughout Europe. The purpose of this test is to distinguish the different types of tumour and their aggressiveness, based on DNA from tumours. This tool would be of incalculable value, as it would give an enormous amount of information to doctors so they can treat the patient in the most suitable manner. The team is very interested in the test including evaluation of certain gene fusions that can be associated with greater aggressiveness and worse prognosis.
Over this past year, an article has been published, analysing data from more than 1000 samples from other studies. The data show that high-grade brain tumours in children can be classified according to certain genetic alterations in the tumour cells. And most importantly, certain genetic alterations can be correlated with how these tumours evolve clinically.
Work is still on going to design a genetic test to analyse childhood brain tumours as soon as they are diagnosed, which would allow clinicians to predict their evolution and chose the best therapies.
The team is currently conducting several large European-wide trials with regard to childhood Gliomas. One of them is about gliomatosis cerebri, a very aggressive variant of this type of tumour. Several genetic alterations have been identified in different groups of patients, which would improve their treatment. This work will be published over the course of 2019.
The second of them is based on the analysis of the largest number of childhood glioma samples compiled to date (220 samples). The results will be published in 2019, but the preliminary data have already been presented at ISPNO 2018 (Denver), the most important international congress on paediatric brain tumours.
Finally, an important paper has been published in the prestigious journal Cancer Cell (read the full story here), based on the analysis of more than 1000 samples of high-grade glioma and diffuse intrinsic pontine glioma. The results show that children whose tumours have mutations in certain cell systems can be effectively treated with a treatment indicated a priori for other types of adult pathologies. This study, led by Chris Jones’ group and involving 51 centres from 14 countries, highlights the importance of genetic studies into the DNA of child patients when it comes to selecting the best therapies.
Achievements pre 2018:
Thanks to the support of the CRIS Cancer Foundation a new scientist joined the team early in 2016 and the group has attended prestigious meetings and conferences (e.g. the International Congress on Paediatric Neuro-Oncology). The group has initiated the extraction of the genetic material of more than 60 samples coming from several European hospitals. Preliminary analysis of these samples shows very promising results and indeed even the emergence of a new subtype of brain tumour with no known genetic overlap, seemingly driven by unique gene fusion events rather than the common mutations seen elsewhere. On top of this, in collaboration with the Royal Marsden Hospital, the group is fine-tuning the details of the potential tumour genetic test to incorporate testing for fusion genes.