Newly Identified Brain Cancer Mutation Hopes To Aid Drug Development

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Charles S. Cobbs, MD

The Gregory Foltz, MD Endowed Director
Ben & Catherine Ivy Center for
Advanced Brain Tumor Treatment
Swedish Neuroscience Specialists

 

 

Duke University investigators have recently published and esoteric molecular genetics research finding that may increase our ability to understand the biology of pediatric intrinsic brainstem gliomas.  http://corporate.dukemedicine.org/news_and_publications/news_office/news/newly-identified-brain-cancer-mutation-will-aid-drug-development?utm_source=corporate.dukemedicine.org&utm_medium=rss&utm_campaign=RSS_news

These are devastating tumors that are impossible to treat surgically. The Duke investigators analyzed about a dozen of these tumors and looked at all of the genes related to these tumors for mutations and other modifications of the DNA. The study led to the discovery that a specific DNA mutation of the gene called PPM1D was present in about 40% of these tumors. This mutation was functionally similar to another important mutation called P. 53 that is known to be important in the DNA damage response which is critical for radiation treatment. It is hoped that this genetic finding may improve our ability to understand molecular biology of response of these tumors to radiation treatment, and potentially lead to targeted therapies that could enhance the radiation response and improve survival. Any such therapeutic drugs, based on the research published here, is likely to be years away, so current patients with diffuse pontine gliomas should not look to the study to provide therapeutic options for them at the current time.

 

 

 

 

 

 

 

 

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