While every person with the Neurofibromatosis type 1 (NF1) cancer predisposition syndrome is born with a single mutation (genetic change) in one copy of their two NF1 genes, it is not known whether the type of mutation predicts what medical problems might arise in any given individual. Now, researchers at the Washington University NF Center found that the location of the NF1 gene mutation correlates with the development of brain tumors.
In this study, Corina Anastasaki, PhD, a Senior Staff Scientist in the laboratory of NF Center Director, David H. Gutmann, MD, PhD, sought to determine whether children with brain tumors (optic gliomas) were more likely to have mutations in specific regions of the NF1 gene. Leveraging three existing data sets in combination with nearly 40 children cared for by Dr. Gutmann and Dr. Stephanie Morris at St. Louis Children’s Hospital, she was able to examine over 300 people with different NF1 gene mutations. Using this approach, Dr. Anastasaki found that people with NF1 gene mutations in the first half of the gene were more likely to harbor brain tumors.
While these findings are very exciting, they are currently not specific enough to allow doctors to accurately predict who will develop a brain tumor solely on the basis of that child’s specific mutation. Current work at the Washington University NF Center aims to combine the NF1 gene mutation with other factors to improve our ability to identify those children at greatest risk for brain tumors.
This report was published in the journal, Neurology: Genetics.
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Anastasaki C, Morris SM, Gao F, Gutmann DH. Children with 5′-end NF1 gene mutations are more likely to have glioma. Neurol Genet. 2017 Sep 22;3(5):e192. doi: 10.1212/NXG.0000000000000192. eCollection 2017 Oct.