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MYO5A::FGFR1 represents a novel fusion event in pediatric low-grade glioma

Robert T. Galvin, Cynthia Zheng, Garrett Fitzpatrick, Colleen L. Forster, Carolina Sandoval-Garcia, Daniel Guillaume, Ahmed Elbermawy, Andrew C. Nelson, Can Ozutemiz, Liam Chen, Christopher L. Moertel

Neuro-oncology advances(2023)

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Abstract
Low-grade gliomas (LGG) represent the most common type of central nervous system (CNS) neoplasm in children.(1-3) Importantly, pediatric-type LGGs, affecting children and young adults, are molecularly distinct from adult-type LGGs. While the latter typically harbor IDH1 or IDH2 mutations, pediatric-type LGGs invariably involve activation of the mitogen-activated protein kinase (MAPK) cascade.(4,5) While adult-type LGG often progress into higher grade gliomas over time, pediatric-type LGGs are associated with excellent overall survival of >95%.(4 )Nonetheless, they are at risk for progression many years after diagnosis and patients may suffer functional morbidity.
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Key words
next generation sequencing,MYO5A,FGFR1,pediatric,low-grade glioma
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