Ganglioglioma associated with alterations of NBN gene. A case report

Wieslawa Grajkowska; Dorota Piekutowska-Abramczuk; Elzbieta Ciara; Bozena Dembowska-Baginska; Danuta Perek; Marcin Roszkowski; Pawel Daszkiewicz; Ewa Matyja; Maciej Pronicki; Krystyna H. Chrzanowska

eISSN: 1509-572x
ISSN: 1641-4640

Folia Neuropathologica

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3/2009
vol. 47

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abstract:

Ganglioglioma associated with alterations of NBN gene. A case report

Wieslawa Grajkowska

,

Dorota Piekutowska-Abramczuk

,

Elzbieta Ciara

,

Bozena Dembowska-Baginska

,

Danuta Perek

,

Marcin Roszkowski

,

Pawel Daszkiewicz

,

Ewa Matyja

,

Maciej Pronicki

,

Krystyna H. Chrzanowska

Folia Neuropathol 2009; 47 (3): 278-283

Online publish date: 2009/09/25

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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.

keywords:

Ganglioglioma associated with alterations of NBN gene. A case report

Wieslawa Grajkowska , Dorota Piekutowska-Abramczuk , Elzbieta Ciara , Bozena Dembowska-Baginska , Danuta Perek , Marcin Roszkowski , Pawel Daszkiewicz , Ewa Matyja , Maciej Pronicki , Krystyna H. Chrzanowska

ganglioglioma, paediatric brain tumours, Nijmegen breakage syndrome, nibrin, DNA repair genes, NBN gene

Wieslawa Grajkowska

,

Dorota Piekutowska-Abramczuk

,

Elzbieta Ciara

,

Bozena Dembowska-Baginska

,

Danuta Perek

,

Marcin Roszkowski

,

Pawel Daszkiewicz

,

Ewa Matyja

,

Maciej Pronicki

,

Krystyna H. Chrzanowska