Journal of Neuro-Oncology

, Volume 96, Issue 2, pp 161–168

The frequency of NBN molecular variants in pediatric astrocytic tumors

  • Dorota Piekutowska-Abramczuk
  • Elżbieta Ciara
  • Ewa Popowska
  • Wiesława Grajkowska
  • Bożenna Dembowska-Bagińska
  • Ewa Kowalewska
  • Aneta Czajńska
  • Marta Perek-Polnik
  • Marcin Roszkowski
  • Małgorzata Syczewska
  • Małgorzata Krajewska-Walasek
  • Danuta Perek
  • Krystyna H. Chrzanowska
Laboratory Investigation - Human/Animal Tissue

DOI: 10.1007/s11060-009-9958-5

Cite this article as:
Piekutowska-Abramczuk, D., Ciara, E., Popowska, E. et al. J Neurooncol (2010) 96: 161. doi:10.1007/s11060-009-9958-5

Abstract

Gliomas, particularly those of astrocytic origin, are the most frequent primary central nervous system tumors that develop in children. The majority of them are benign and slow growing, with relatively good prognosis. Several genomic and gene alterations are known to be involved in astrocytoma development, but the precise mechanisms remain poorly understood. The NBN gene, which participates in DNA double-strand break repair and maintenance of genome stability, has been postulated to be a susceptibility factor for a number of cancers. Here we report the results of NBN gene analyses performed in 127 children with various astrocytic tumors. PCR-SSCP analysis followed by DNA sequencing was used for molecular variant screening. Three carriers (2.37%) of different germline mutations on one NBN allele were found. The common Slavic deletion c.657_661del5 (p.K219fsX19) was detected in a patient with pilocytic astrocytoma; a known mutation, c.643C>T (p.R215W), and a new substitution, c.565C>G (p.Q189E), were identified in two patients with primary glioblastoma. The risk of developing astrocytic malignancies is estimated to be 1.33 times higher for c.657_661del5 and 3.2 times higher for c.643C>T than in the general Polish population (P > 0.05). Because of the low frequency of the mutations identified in the studied group, we were unable to determine the exact role of NBN in the development of astrocytoma in children. The presence of two potentially pathogenic NBN molecular variants among 16 glioblastoma cases (12.5%) could be a remarkable finding in our study. We thus cannot exclude a possible role of NBN in the tumorigenesis of a certain type of astrocytic tumors.

Keywords

NBN gene Germ line mutations Astrocytic tumors Cancer risk 

Copyright information

© Springer Science+Business Media, LLC. 2009

Authors and Affiliations

  • Dorota Piekutowska-Abramczuk
    • 1
  • Elżbieta Ciara
    • 1
  • Ewa Popowska
    • 1
  • Wiesława Grajkowska
    • 2
  • Bożenna Dembowska-Bagińska
    • 3
  • Ewa Kowalewska
    • 3
  • Aneta Czajńska
    • 3
  • Marta Perek-Polnik
    • 3
  • Marcin Roszkowski
    • 4
  • Małgorzata Syczewska
    • 5
  • Małgorzata Krajewska-Walasek
    • 1
  • Danuta Perek
    • 3
  • Krystyna H. Chrzanowska
    • 1
  1. 1.Department of Medical GeneticsThe Children’s Memorial Health InstituteWarsawPoland
  2. 2.Department of PathologyThe Children’s Memorial Health InstituteWarsawPoland
  3. 3.Department of OncologyThe Children’s Memorial Health InstituteWarsawPoland
  4. 4.Department of NeurosurgeryThe Children’s Memorial Health InstituteWarsawPoland
  5. 5.Department of Pediatric RehabilitationThe Children’s Memorial Health InstituteWarsawPoland

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