title: Homozygous deletion of TNFRSF4, TP73, PPAP2B and DPYD at 1p and PDCD5 at 19q identified by multiplex ligation-dependent probe amplification (MLPA) analysis in pediatric anaplastic glioma with questionable oligodendroglial component.
abstract: BACKGROUND
  Pediatric oligodendrogliomas are rare and appear to show a different molecular profile from adult tumors. Some gliomas display allelic losses at 1p/19q in pediatric patients, although less frequently than in adult patients, but this is rare in tumors with an oligodendroglial component. The molecular basis of this genomic abnormality is unknown in pediatric gliomas, but it represents a relatively common finding in pediatric oligodendroglioma-like neoplasms with leptomeningeal dissemination.
  
  
  RESULTS
  Multiplex ligation-dependent probe amplification (MLPA) analysis using SALSA P088-B1 for the analysis of the 1p/19q allelic constitution in a pediatric anaplastic (oligodendro)-glioma showed homozygous co-deletion for markers: TNFRSF4 (located at 1p36.33), TP73 (1p36.32), PPAP2B (1pter-p22.1), DPYD (1p21.3), and PDCD5 (19q13.12), and hemizygous deletion of BAX (19q13.3-q13.4). No sequence changes for R132 and R172 of the IDH1/2 genes were identified.
  
  
  CONCLUSIONS
  The molecular findings in this pediatric anaplastic glioma do not allow for a clearly definitive pathological diagnosis. However, the findings provide data on a number of 1p/19q genomic regions that, because of homozygotic deletion, might be the location of genes that are important for the development and clinical evolution of some malignant gliomas in children.
authors.forename: Miguel
authors.initials: M
authors.lastname: Torres-Martín
authors.forename: Carolina
authors.initials: C
authors.lastname: Peña-Granero
authors.forename: Fernando
authors.initials: F
authors.lastname: Carceller
authors.forename: Manuel
authors.initials: M
authors.lastname: Gutiérrez
authors.forename: Rommel R
authors.initials: RR
authors.lastname: Burbano
authors.forename: Giovanny R
authors.initials: GR
authors.lastname: Pinto
authors.forename: Javier S
authors.initials: JS
authors.lastname: Castresana
authors.forename: Bárbara
authors.initials: B
authors.lastname: Melendez
authors.affiliation: Molecular Neuro-oncogenetics Laboratory, Research Unit-Unidad de Investigación, Hospital Universitario La Paz, Paseo de la Castellana 261, 28046 Madrid, Spain. jreyh@salud.madrid.org.
authors.forename: Juan A
authors.initials: JA
authors.lastname: Rey