title: Ganglioglioma associated with alterations of NBN gene. A case report.
abstract: We report a case of a 13-year-old girl with a tumour of the right fronto-parietal region of the brain. The tumour consisted of two components: a well-differentiated astroglial component with Rosenthal fibres and a neoplastic neuronal component. The final histopathology established diagnosis of ganglioglioma WHO grade I. The patient was selected from a group of children with central nervous system (CNS) tumours screened for the most common molecular variants in the NBN gene (exons 5 and 6). Molecular analysis revealed the presence of c.511A>G (p.Ile171Val) substitution on one allele. This is the first patient with ganglioglioma and confirmed mutation in the NBN gene.
authors.affiliation: Department of Pathology, The Children's Memorial Heath Institute, 04-730 Warsaw, Poland. w.grajkowska@czd.pl
authors.forename: Wiesława
authors.initials: W
authors.lastname: Grajkowska
authors.forename: Dorota
authors.initials: D
authors.lastname: Piekutowska-Abramczuk
authors.forename: Elzbieta
authors.initials: E
authors.lastname: Ciara
authors.forename: Bozena
authors.initials: B
authors.lastname: Dembowska-Baginska
authors.forename: Danuta
authors.initials: D
authors.lastname: Perek
authors.forename: Marcin
authors.initials: M
authors.lastname: Roszkowski
authors.forename: Pawel
authors.initials: P
authors.lastname: Daszkiewicz
authors.forename: Ewa
authors.initials: E
authors.lastname: Matyja
authors.forename: Maciej
authors.initials: M
authors.lastname: Pronicki
authors.forename: Krystyna H
authors.initials: KH
authors.lastname: Chrzanowska
mesh_terms: D000293:Adolescent; D000970:Antineoplastic Agents / Q000627:therapeutic use; D001932:Brain Neoplasms / Q000235:genetics* / Q000473:pathology / Q000628:therapy; D018797:Cell Cycle Proteins / Q000235:genetics*; D003131:Combined Modality Therapy; D004252:DNA Mutational Analysis; D005260:Female; D018303:Ganglioglioma / Q000235:genetics* / Q000473:pathology / Q000628:therapy; D006801:Humans; D007150:Immunohistochemistry; D019635:Neurosurgical Procedures; D009687:Nuclear Proteins / Q000235:genetics*; D017354:Point Mutation; D018807:Polymorphism, Single-Stranded Conformational; D011878:Radiotherapy
chemical_list: D000970:Antineoplastic Agents; D018797:Cell Cycle Proteins; C112156:NBN protein, human; D009687:Nuclear Proteins