title: Clinicopathological, Radiological, and Genetic Analyses of Cerebellar Gangliogliomas with Long-Term Survival.
abstract: OBJECTIVE
  Cerebellar gangliogliomas show different image findings and clinical behaviors from the supratentorial; however, their molecular basis and optimal managements remain to be elucidated. We report 3 children with cerebellar ganglioglioma and long-term survival, focusing on clinicopathological and radiological findings and genetic analyses.
  
  
  METHODS
  We retrospectively analyzed 3 children with cerebellar ganglioglioma treated in our institute between 2000 and 2010. Immunohistochemical examinations were performed to determine the expression of KI-67, glial fibrillary acidic protein, synaptophysin, BRAFV600Eand IDH-1 R132H mutated proteins. Standard Sanger sequencing was used to confirm BRAF, IDH-1/2, and Histone H3.3 mutations. Methylation-specific polymerase chain reaction was used to evaluate MGMT promoter methylation.
  
  
  RESULTS
  In all cases, magnetic resonance imaging demonstrated an infiltrative tumor in cerebellar peduncle and hemisphere. All 3 children are alive (>12 years survival), and their residual tumors have been stable for more than 5 years after the treatments. Their tumors showed distinctive features of ganglioglioma with low Ki-67 index (2%-4%), positive for the BRAFV600Emutation, but negative for IDH1/2 mutations. The MGMT promoter methylation was observed in all of them.
  
  
  CONCLUSIONS
  Our study showed that all 3 children achieved long-term survival with residual tumors. These tumors might indicate a benign prognosis of pediatric cerebellar gangliogliomas, regardless of the infiltrating manifestation and the presence of BRAF mutation.
authors.affiliation: Department of Neurosurgery, Kyoto University Graduate School of Medicine, Kyoto, Japan.
authors.forename: Bin
authors.initials: B
authors.lastname: Liu
authors.affiliation: Department of Neurosurgery, Kyoto University Graduate School of Medicine, Kyoto, Japan. Electronic address: yarakawa@kuhp.kyoto-u.ac.jp.
authors.forename: Yoshiki
authors.initials: Y
authors.lastname: Arakawa
authors.affiliation: Department of Neurosurgery, Kyoto University Graduate School of Medicine, Kyoto, Japan.
authors.forename: Daiki
authors.initials: D
authors.lastname: Murata
authors.affiliation: Department of Neurosurgery, Kyoto University Graduate School of Medicine, Kyoto, Japan.
authors.forename: Yohei
authors.initials: Y
authors.lastname: Mineharu
authors.affiliation: Department of Neurosurgery, Kyoto University Graduate School of Medicine, Kyoto, Japan.
authors.forename: Ryuta
authors.initials: R
authors.lastname: Yokogawa
authors.affiliation: Department of Neurosurgery, Kyoto University Graduate School of Medicine, Kyoto, Japan.
authors.forename: Masahiro
authors.initials: M
authors.lastname: Tanji
authors.affiliation: Department of Neurosurgery, Kyoto University Graduate School of Medicine, Kyoto, Japan.
authors.forename: Ko-Ichi
authors.initials: KI
authors.lastname: Fujimoto
authors.affiliation: Department of Neurosurgery, Kyoto University Graduate School of Medicine, Kyoto, Japan.
authors.forename: Nobuyuki
authors.initials: N
authors.lastname: Fukui
authors.affiliation: Department of Neurosurgery, Kyoto University Graduate School of Medicine, Kyoto, Japan.
authors.forename: Yukinori
authors.initials: Y
authors.lastname: Terada
authors.affiliation: Department of Neurosurgery, Kyoto University Graduate School of Medicine, Kyoto, Japan.
authors.forename: Susumu
authors.initials: S
authors.lastname: Miyamoto
mesh_terms: D014408:Biomarkers, Tumor / Q000235:genetics*; D002528:Cerebellar Neoplasms / Q000175:diagnosis / Q000235:genetics* / Q000601:surgery*; D002675:Child, Preschool; D018572:Disease-Free Survival; D005260:Female; D018303:Ganglioglioma / Q000175:diagnosis / Q000235:genetics* / Q000601:surgery*; D005819:Genetic Markers / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005820:Genetic Testing / Q000379:methods; D006801:Humans; D008137:Longitudinal Studies; D008297:Male; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D015996:Survival Rate; D016896:Treatment Outcome
chemical_list: D014408:Biomarkers, Tumor; D005819:Genetic Markers
keywords: BRAF V600E mutation; Cerebellum; Ganglioglioma; Isocitrate dehydrogenase 1 mutation; MGMT promoter methylation; Pediatric; Prognosis