Ganglioglioma associated with alterations of NBN gene. A case report.
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.
Grajkowska
Wiesława
W
Department of Pathology, The Children's Memorial Heath Institute, 04-730 Warsaw, Poland. w.grajkowska@czd.pl
Piekutowska-Abramczuk
Dorota
D
Ciara
Elzbieta
E
Dembowska-Baginska
Bozena
B
Perek
Danuta
D
Roszkowski
Marcin
M
Daszkiewicz
Pawel
P
Matyja
Ewa
E
Pronicki
Maciej
M
Chrzanowska
Krystyna H
KH
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
D000970:Antineoplastic Agents; D018797:Cell Cycle Proteins; C112156:NBN protein, human; D009687:Nuclear Proteins