Genetic mutations found in brain tumours in children have opened up intriguing avenues to tackle this lethal form of cancer, researchers said on April 07. Investigators found telltale mutations in a gene called ACVR1, which appears to play a role in a currently incurable form of childhood brain cancer called diffuse intrinsic pontine glioma, or DIPG.
The mutations were found in 20 to 33 percent of DIPG biopsies in three different studies published in the journal Nature Genetics.
DIPG is the most aggressive brain tumour in children. It develops in the brain stem, which is the seat of basic body functions that keep people alive, which means that it cannot be removed safely by surgery.
It is the first time that ACVR1 has been fingered in cancer. A mutated form of ACVR1, though, has been identified previously in a rare disorder called "Stone Man syndrome," in which the body's muscles and tendons progressively turn to bone.
The work should also shed light on understanding some of the fundamental mechanisms of DIPG, including its progression from an early-stage condition, the Institute Gustave Roussy in Paris, which took part in one of the studies, said in a statement. In addition, "specific inhibitor drugs" are being developed that may be of potential use against the faulty gene, it added.
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