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Gene mutations that cause brain tumour in children identified

Jul 23, 2012

Washington:  Scientists claimed to have identified several gene mutations responsible for the most common childhood brain tumour.

Pathbreaking find. Getty Images

Researchers at the Stanford University School of Medicine and Lucile Packard Children’s Hospital have successfully stratified medulloblastomas, most common brain tumour in children genomically, and recognised what gene mutations drive each molecular subtype.

This will allow classification and treatment of medulloblastoma based on molecular typing.

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.

“We tend to treat all medulloblastomas as one disease without taking into account how heterogeneous the tumours are at the molecular level,” said Yoon-Jae Cho, assistant professor at Stanford, a paediatric neurologist at Packard Children’s and the senior author of the new research.

The research was published in the journal Nature. Current treatment for medulloblastoma, which originates in the cerebellum begins with surgery to remove as much of the tumour as possible. Patients then receive a combination of radiation and chemotherapy.

Cho’s team extracted DNA from 92 medulloblastoma tumours and compared it with DNA from matched blood samples from the same patients, uncovering 12 significant “point mutations” — single-letter errors in the genetic code that occurred frequently in the brain cancer.

PTI

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