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Published on: February 22, 2015
Ganglioglioma associated with alterations of NBN gene. A case report
Wiesława Grajkowska1, Dorota Piekutowska-Abramczuk, Elzbieta Ciara
1Department of Pathology, The Children's Memorial Heath Institute, 04-730 Warsaw, Poland. w.grajkowska@czd.pl
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.

