SETD2 mutations in primary central nervous system tumors

• DOI: 10.1186/s40478-018-0623-0
• Publication Date: 2018-11-12T04:07:28Z
• Authors: Angela N. Viaene; Mariarita Santi; Jason Rosenbaum; Marilyn M. Li; Lea F. Surrey; MacLean P. Nasrallah
• Keywords: Adult; Male; 0301 basic medicine; Adolescent; Central Nervous System Neoplasms; Cohort Studies; Histones; 03 medical and health sciences; Gene Frequency; Humans; RC346-429; Child; Aged; Aged, 80 and over; Research; H3K36me3; SETD2; Glioma; Histone-Lysine N-Methyltransferase; Middle Aged; 3. Good health; Brain tumor; Histone; Mutation; Epigenetics; Female; Neurology. Diseases of the nervous system

Mutations in SETD2 are found many tumors, including central nervous system (CNS) tumors. Previous work has shown these mutations occur specifically high grade gliomas of the cerebral hemispheres pediatric and young adult patients. We investigated a cohort approximately 640 CNS tumors via next generation sequencing; 23 were detected across 19 primary wide variety locations at broad range allele frequencies. seen both low as well non-glial occurred patients greater than 55 years age, addition to High first occurrence demonstrated either frameshift/truncating or point frequencies, whereas recurrent frequently harbored subclones with lower frequencies setting higher mutational burdens. Comparison TCGA dataset consistent findings. Finally, immunohistochemistry showed decreased staining for H3K36me3 our mutant compared wildtype controls. Our data further describe spectrum which provide context interpretation clinical setting.