Genetic mutations behind fatal brain cancer in kids identified

London, Jan 27 (ANI): An international research team has identified two genetic mutations responsible for up to 40 per cent of glioblastomas in children - a fatal cancer of the brain that is unresponsive to chemo and radiotherapy treatment.

The mutations were found to be involved in DNA regulation, which could explain the resistance to traditional treatments, and may have significant implications on the treatment of other cancers.

The finding of the team led by the Research Institute of the McGill University Health Centre (RI MUHC) could change the way pediatric cancers are treated in the future.

Using the knowledge and advanced technology of the team from the McGill University and GEnome QuEbec Innovation Centre, the researchers identified two mutations in an important gene known as the histone H3.3.

This gene, one of the guardians of our genetic heritage, is key in modulating the expression of our genes.

"These mutations prevent the cells from differentiating normally and help protect the genetic information of the tumor, making it less sensitive to radiotherapy and chemotherapy," said Dr. Nada Jabado, hematologist-oncologist at The Montreal Children's Hospital of the McGill University Health Centre (MUHC) and principal investigator of the study.

"This research helps explain the ineffectiveness of conventional treatments against cancer in children and adolescents - we've been failing to hit the right spot.

"It is clear now that glioblastoma in children is due to different molecular mechanisms than those in adults, and should not be treated in the same way. Importantly, we now know where to start focusing our efforts and treatments instead of working in the dark," added Dr. Jabado, who is also an Associate Professor of Pediatrics at McGill University.

Inappropriate regulation of this gene has been observed in other cancers such as colon, pancreatic, lymphoma, leukemia and pancreatic neuroendocrine cancer, and future research could therefore reveal improved treatments for these diseases.

"What is significant here is that for the first time in humans we have identified a mutation in one of the most important genes that regulates and protects our genetic information. This is the irrefutable proof that our genome, if modified, can lead to cancer and probably other diseases. What genomics has shown us today is only the beginning," Dr. Jabado said.

The study was published this week in the journal Nature. (ANI)