The discovery of a mutated gene (ACVR 1) would make it possible to fight against the infiltrating glioma of the brainstem, a brain tumor extremely serious for which there is no effective treatment to cure children according to the results of scientific research presented in the specialized journal Nature Genetics.
A primordial discovery
This work was led by Dr Jacques Grill from the Institut Gustave Roussy, Villejuif and Chris Jones from the Institute of Cancer Research, in Great Britain. The researchers performed the sequencing of naive tumors (which have never undergone chemotherapy or radiotherapy). They identified mutations in the ACVR1 gene. This mutated gene represents a new therapeutic target for which specific inhibitors are under development.
“This gene therefore constitutes a new therapeutic target for which specific inhibitors are being developed” explains Dr Jacques Grill, pediatrician and head of the Cerebral Tumors program of the Department of Childhood and Adolescent Oncology at Gustave Roussy. “This is an important step in hoping to one day offer children affected by this terrible disease new and more effective treatments. Indeed, no progress can be noted in their management for more than 40 years and the introduction of radiotherapy ”.
“Treatments targeting the mutated ACVR1 gene could be used to cure gliomainfiltrating children’s brainstem as well as patients with stone man disease (a rare genetic disease in which muscles and tendons ossify) ”.
Childhood brain cancer: an incurable disease
The leading cause of brain tumor death in children, infiltrating brainstem glioma mainly affects children between 5 and 8 years old. 30 to 40 new cases are identified per year in France. Inoperable because they infiltrate brain tissue, the only current treatment is radiotherapy but without lasting results. The majority of affected children die within two years, half within a year.
This discovery gives hope for new treatment possibilities.
