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Abstract   Background  The mitogen-activated protein kinases/extracelluar signal-regulated kinases pathway is involved in cell growth and proliferation, and mutations in  BRAF  have made it an oncogene of interest in pediatric cancer. Previous studies found that  BRAF  mutations as well as  KIAA1549–BRAF  fusions are common in intracranial low-grade gliomas (LGGs). Fewer studies have tested for the presence of these genetic changes in spinal LGGs. The aim of this study was to better understand the prevalence of BRAF and other genetic aberrations in spinal LGG.    Methods  We retrospectively analyzed 46 spinal gliomas from patients aged 1–25 years from Children’s Hospital Colorado (CHCO) and The Hospital for Sick Children (SickKids). CHCO utilized a 67-gene panel that assessed  BRAF  and additionally screened for other possible genetic abnormalities of interest. At SickKids,  BRAF   V600E   was assessed by droplet digital polymerase chain reaction and immunohistochemistry. BRAF fusions were detected by fluorescence in situ hybridization, reverse transcription polymerase chain reaction, or NanoString platform. Data were correlated with clinical information.    Results  Of 31 samples with complete fusion analysis, 13 (42%) harbored  KIAA1549–BRAF . All 13 (100%) patients with confirmed  KIAA1549–BRAF  survived the entirety of the study period (median [interquartile range] follow-up time: 47 months [27–85 months]) and 15 (83.3%) fusion-negative patients survived (follow-up time: 37.5 months [19.8–69.5 months]). Other mutations of interest were also identified in this patient cohort including  BRAF   V600E  ,  PTPN11 ,  H3F3A ,  TP53 ,  FGFR1 , and  CDKN2A  deletion.    Conclusion    KIAA1549–BRAF  was seen in higher frequency than  BRAF   V600E   or other genetic aberrations in pediatric spinal LGGs and experienced lower death rates compared to  KIAA1549–BRAF  negative patients, although this was not statistically significant.

Clinical and molecular characterization of a multi-institutional cohort of pediatric spinal cord low-grade gliomas