title: TP53, β-Catenin and c-myc/N-myc status in embryonal tumours with ependymoblastic rosettes.
abstract: BACKGROUND
  The primitive neuroectodermal tumours of central nervous system (CNS-PNET) are a heterogeneous group of neoplasms, occurring in the CNS and 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 polymorphism-mutational 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.
authors.affiliation: Institute of Neuropathology, University of Bonn Medical Center, Bonn, Germany. mgessimd@yahoo.com
authors.forename: M
authors.initials: M
authors.lastname: Gessi
authors.forename: A
authors.initials: A
authors.lastname: Zur Muehlen
authors.forename: L
authors.initials: L
authors.lastname: Lauriola
authors.forename: M P
authors.initials: MP
authors.lastname: Gardiman
authors.forename: F
authors.initials: F
authors.lastname: Giangaspero
authors.forename: T
authors.initials: T
authors.lastname: Pietsch
mesh_terms: D001932:Brain Neoplasms / Q000235:genetics* / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D005260:Female; D005784:Gene Amplification; D006801:Humans; D007223:Infant; D008297:Male; D009373:Neoplasms, Germ Cell and Embryonal / Q000235:genetics* / Q000473:pathology; D017354:Point Mutation; D018807:Polymorphism, Single-Stranded Conformational; D016271:Proto-Oncogene Proteins c-myc / Q000235:genetics*; D020133:Reverse Transcriptase Polymerase Chain Reaction; D016159:Tumor Suppressor Protein p53 / Q000235:genetics*; D051176:beta Catenin / Q000235:genetics*
chemical_list: C495270:CTNNB1 protein, human; C489427:MYC protein, human; D016271:Proto-Oncogene Proteins c-myc; C495901:TP53 protein, human; D016159:Tumor Suppressor Protein p53; D051176:beta Catenin