Team finds 2 mutations that cause pediatric brain cancer

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Glioblastomas are less common in children than in adults but just as lethal. They are fatal tumors that don't respond to chemotherapy and radiation and inflict a particularly nasty death.

These facts make a new discovery led by the Research Institute of the McGill University Health Centre in Montreal all the more compelling. Experts have discovered two never-before-known mutations in the histone H3.3 gene that cause as many as 40% of pediatric glioblastomas.

Let us pause and consider the implications here. The international discovery, which is detailed in the journal Nature, amounts to finding a weakness in a foe previously considered almost unstoppable. H3.3 is crucial to modulating gene expression. Distort it, or mutate it, and cells no longer differentiate normally. And scientists now know this mutation protects the genetic information of the tumor, which means radiotherapy and chemotherapy are less effective than on other cancers. What's more, the mutation doesn't really exist in adults with the same cancer, which means children with the affliction need a different treatment.

Principal investigator Dr. Nada Jabado, a hematologist/oncologist at The Montreal Children's Hospital of the McGill University Health Centre, explained in a statement that the discovery amounts to finding a light at the end of the tunnel.

"We now know where to start focusing our efforts and treatments instead of working in the dark," she said.

In other words, identifying the mutation allows surgeons the chance of coming up with a personalized treatment that best targets the newly discovered weakness. Those specific treatments might be years away, but the possibility that they can be created is a bright ray of hope. The researchers' discovery is also the gift that keeps on giving. It turns out that inappropriate regulation of the same gene also takes place in colon, pancreatic, lymphoma, leukemia and pancreatic neuroendocrine cancers, the research notes, which could someday expand treatment options for those cancers as well.

- here's the release

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