TP53, β-Catenin and c-myc/N-myc status in embryonal tumours with ependymoblastic rosettes

M. Gessi, A. zur Muehlen, L. Lauriola, M. P. Gardiman, F. Giangaspero, T. Pietsch

Research output: Contribution to journalArticlepeer-review

Abstract

Background: The primitive neuroectodermal tumours of central nervous system (CNS-PNET) are a heterogeneous group of neoplasms, occurring in theCNSand composed of undifferentiated or poorly differentiated neuroepithelial cells which may display divergent differentiation along neuronal, astrocytic and ependymal lines. The WHO classification includes in this group of tumours also ependymoblastomas and medulloepitheliomas. Several groups have reported examples of CNS-PNET with combined histological features of ependymoblastoma and neuroblastoma, defined as 'embryonal tumour with abundant neuropil and true rosettes'. The presence of the amplification of chromosome region 19q13.42, common in both ependymoblastoma and embryonal tumour with abundant neuropil and true rosettes, suggests that they represent a histological spectrum of a single biological entity. Methods: We examined 24 cases of ependymoblastoma/ embryonal tumour with abundant neuropil and true rosettes (EPBL/ETANTR) for the presence of mutations of TP53 and β-Catenin and for amplification of c-myc/N-myc. Results: The single strand conformation polymorphismmutational screening did not identify any mutation in exons 5 to 8 of the TP53 gene. However, we found a point mutation affecting codon 34 (GGA→GTA) of β-Catenin gene resulting in a Glycine→Valine substitution. No cases presented c-myc/N-myc amplification. Conclusions: EPBL/ ETANTRs show molecular features different from other CNS-PNET and medulloblastomas. The presence of alterations in the β-Catenin/WNT pathway seems to be noteworthy due to the close relationship between this pathway and miR-520g encoded in chromosome 19q13.42 region amplified in these tumours.

Original languageEnglish
Pages (from-to)406-413
Number of pages8
JournalNeuropathology and Applied Neurobiology
Volume37
Issue number4
DOIs
Publication statusPublished - Jun 2011

Keywords

  • β-Catenin
  • C-myc/N-myc
  • CNS-PNET
  • embryonal tumour with abundant neuropil and true rosettes
  • ependymoblastoma
  • TP53

ASJC Scopus subject areas

  • Clinical Neurology
  • Pathology and Forensic Medicine
  • Neurology
  • Histology
  • Physiology (medical)
  • Geotechnical Engineering and Engineering Geology
  • Materials Science(all)
  • Mechanics of Materials
  • Computational Mechanics

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