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

Abstract

3/2009 vol. 47

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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AMA

Grajkowska W, Piekutowska-Abramczuk D, Ciara E, et al. Ganglioglioma associated with alterations of NBN gene. A case report. Folia Neuropathologica. 2009;47(3):278-283.

APA

Grajkowska, W., Piekutowska-Abramczuk, D., Ciara, E., Dembowska-Baginska, B., Perek, D., & Roszkowski, M. et al. (2009). Ganglioglioma associated with alterations of NBN gene. A case report. Folia Neuropathologica, 47(3), 278-283.

Chicago

Grajkowska, Wieslawa, Dorota Piekutowska-Abramczuk, Elzbieta Ciara, Bozena Dembowska-Baginska, Danuta Perek, Marcin Roszkowski, and Pawel Daszkiewicz et al. 2009. "Ganglioglioma associated with alterations of NBN gene. A case report". Folia Neuropathologica 47 (3): 278-283.

Harvard

Grajkowska, W., Piekutowska-Abramczuk, D., Ciara, E., Dembowska-Baginska, B., Perek, D., Roszkowski, M., Daszkiewicz, P., Matyja, E., Pronicki, M., and Chrzanowska, K. (2009). Ganglioglioma associated with alterations of NBN gene. A case report. Folia Neuropathologica, 47(3), pp.278-283.

MLA

Grajkowska, Wieslawa et al. "Ganglioglioma associated with alterations of NBN gene. A case report." Folia Neuropathologica, vol. 47, no. 3, 2009, pp. 278-283.

Vancouver

Grajkowska W, Piekutowska-Abramczuk D, Ciara E, Dembowska-Baginska B, Perek D, Roszkowski M et al. Ganglioglioma associated with alterations of NBN gene. A case report. Folia Neuropathologica. 2009;47(3):278-283.

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

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