Key Mutations For Childhood Brain Cancer Discovered

By Amir Khan on July 23, 2012 3:00 PM EDT

brain in a jar
Researchers discovered key mutations that may be responsible for medulloblastoma, the most common form of cancerous brain tumor in children, according to a new study, published in the journal Nature. The findings provide doctors and researchers with biomarkers that could be used to detect and treat the disease earlier, researchers said. (Photo: Gaetan Lee)

Researchers discovered key mutations that may be responsible for medulloblastoma, the most common form of cancerous brain tumor in children, according to a new study, published in the journal Nature. The findings provide doctors and researchers with biomarkers that could be used to detect and treat the disease earlier, researchers said.

Medulloblastomas occur in the cerebellum, the portion of the brain that controls balance and motor function. It is usually treated with surgery, chemotherapy and radiation, and while survival rate is around 70 percent, treatment leaves many people unable to fend for themselves.

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Doctors used to categorize medulloblastoma patients as either standard or high-risk, depending on biopsy results. However, more recently, researchers have found that medulloblastoma could be divided into four subcategories based on gene expression, each with survival rates ranging from 20 to 90 percent.

"Not only do we now know how to stratify medulloblastomas genomically, we have a firm grasp of what gene mutations drive each molecular subtype," Scott Pomeroy, study coauthor and neurologist at Boston's Children's Hospital, said in a statement. "For the first time, we'll be able to classify and treat medulloblastoma based on molecular typing, providing the best therapy with the fewest long-term consequences."             

Researchers sequenced the genes of tumors from 92 patients and found that they mutate much less than in cancer seen in adults. They also found that gene mutations clustered around four genes, indicating that they may play a role in the development of the tumors.

"The results reflect two emerging genetic themes seen throughout childhood tumors," Pomeroy noted. "First, very low mutation rates, much lower than those seen in adult tumors, and second, the importance of mutations in genes that regulate the function of the cell's growth pathways but which aren't direct components of those pathways."

The findings could pay dividends quickly, researchers said. Patients with medulloblastoma could be reclassified and have treatments tailored to them. In the long run, researchers could tailor treatments to fix or block some of the mutations that lead to medulloblastoma.

Pomeroy credited the cooperation of several institutions as a significant factor.

"Because of our collective efforts, medulloblastoma has gone from an important but obscure tumor to one that we understand better than many other cancers at the molecular level," he said.  

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