Scientists Find Genetic Mutations Behind Childhood Brain Tumors

Medulloblastomas are the most common brain tumors in children under age 15. After extensive research, scientists managed to find the genetic mutations behind childhood brain tumors.

While most childhood brain tumors are treatable, the combination of medication, chemotherapy, surgery and intensive radiation makes life extremely difficult for the young patients. For the most part, while 70 percent of common childhood brain tumors patients live through the ordeal, most remain unable to live independently.

Researchers have long aimed to find the exact trigger of the common childhood brain tumors. Scientists at the Boston Children’s Hospital and with Dana-Farber/Children’s Hospital Cancer Center managed to make a groundbreaking find. The genetic mutations that trigger brain tumors in children have finally been identified.

Using advanced sequencing techniques in the analysis of 92 medical records of medulloblastoma tumor patients, scientists compared DNA. They eventually identified 12 single-letter errors in the patients’ genetic code.

“Functionally, the mutated genes feel into two broad categories” reads the scientists’ announcement. “…genes like Shh and Wnt that play direct roles in molecular pathways controlling cell growth, and genes like DDX3X and GPS2 that play more of a coaching role, modulating the activity of other genes” explained the team of scientists.

By finding the mutated genes that trigger medulloblastomas researchers believe treatment and survival rate will increase. “Doctors have historically classified medulloblastoma patients as either standard or high risk based on biopsy results, but have long suspected that what we call medulloblastoma could actually be several different diseases” reads the scientists’ press release.

This new research in the common childhood brain tumor comes to “confirm the view of medulloblastoma as a family of tumors driven by disruptions in just a few common mechanisms”.

Over the past two years, research in the field has progressed to the extent, scientists now know medulloblastoma or common childhood brain tumors are divided “into four molecular subtypes based on gene expression profiles and copy number variations”. Each subtype features its own “distinct survival rate, ranging from 20 to 90 percent”.

For the young brain cancer patients, the new findings will provide in a few years with “a new set of compounds that have a clear biological rationale based on our genomic studies”. In a nutshell, the findings will lead to a treatment better suited for the treatment of young children, one that will not leave them impaired for a lifetime.

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