Acta Neuropathologica

, Volume 120, Issue 2, pp 253–260

Focal genomic amplification at 19q13.42 comprises a powerful diagnostic marker for embryonal tumors with ependymoblastic rosettes

Authors

  • Andrey Korshunov
    • Clinical Cooperation Unit NeuropathologyGerman Cancer Research Center
    • Department of NeuropathologyUniversity of Heidelberg
  • Marc Remke
    • Division Molecular GeneticsGerman Cancer Research Center
    • Department of Pediatric Oncology, Hematology and ImmunologyUniversity of Heidelberg
  • Marco Gessi
    • Department of NeuropathologyUniversity of Bonn
  • Marina Ryzhova
    • NN Burdenko Neurosurgical Institute
  • Thomas Hielscher
    • Division of BiostatisticsGerman Cancer Research Center (DKFZ)
  • Hendrik Witt
    • Division Molecular GeneticsGerman Cancer Research Center
    • Department of Pediatric Oncology, Hematology and ImmunologyUniversity of Heidelberg
  • Vivienne Tobias
    • Department of PathologySouth Eastern Area Laboratory Service (SEALS) at Sydney Children’s Hospital
  • Anna Maria Buccoliero
    • Department of PathologyCareggi Hospital
  • Iacopo Sardi
    • Department of Pediatric Hematology-OncologyA.O.U. Meyer Children’s Hospital
  • Marina Paola Gardiman
    • Pathology UnitAzienda Ospedaliera
  • Jose Bonnin
    • Division of NeuropathologyIndiana University School of Medicine
  • Bernd Scheithauer
    • Department of PathologyMayo Clinic
  • Andreas E. Kulozik
    • Department of Pediatric Oncology, Hematology and ImmunologyUniversity of Heidelberg
  • Olaf Witt
    • Department of Pediatric Oncology, Hematology and ImmunologyUniversity of Heidelberg
    • Clinical Cooperation Unit Pediatric OncologyGerman Cancer Research Center
  • Sverre Mork
    • Department of PathologyThe Gades Institute
  • Andreas von Deimling
    • Clinical Cooperation Unit NeuropathologyGerman Cancer Research Center
    • Department of NeuropathologyUniversity of Heidelberg
  • Otmar D. Wiestler
    • German Cancer Research Center (DKFZ)
  • Felice Giangaspero
    • Department of Experimental MedicineSapienza University
    • IRCCS Neuromed
  • Marc Rosenblum
    • Department of PathologyMemorial Sloan-Kettering Cancer Center
  • Torsten Pietsch
    • Department of NeuropathologyUniversity of Bonn
  • Peter Lichter
    • Division Molecular GeneticsGerman Cancer Research Center
    • Division Molecular GeneticsGerman Cancer Research Center
    • Department of Pediatric Oncology, Hematology and ImmunologyUniversity of Heidelberg
Original Paper

DOI: 10.1007/s00401-010-0688-8

Cite this article as:
Korshunov, A., Remke, M., Gessi, M. et al. Acta Neuropathol (2010) 120: 253. doi:10.1007/s00401-010-0688-8

Abstract

Ependymoblastoma (EBL) and embryonal tumor with abundant neuropil and true rosettes (ETANTR) are very aggressive embryonal neoplasms characterized by the presence of ependymoblastic multilayered rosettes typically occurring in children below 6 years of age. It has not been established whether these two tumors really comprise distinct entities. Earlier, using array-CGH, we identified a unique focal amplification at 19q13.42 in a case of ETANTR. In the present study, we investigated this locus by fluorescence in situ hybridization in 41 tumors, which had morphologically been diagnosed as EBL or ETANTR. Strikingly, FISH analysis revealed 19q13.42 amplifications in 37/40 samples (93%). Among tumors harboring the amplification, 19 samples were identified as ETANTR and 18 as EBL. The three remaining tumors showed a polysomy of chromosome 19. Analysis of recurrent/metastatic tumors (n = 7) showed that the proportion of nuclei carrying the amplification was increased (up to 80–100% of nuclei) in comparison to the corresponding primary tumors. In conclusion, we have identified a hallmark cytogenetic aberration occurring in virtually all embryonal brain tumors with ependymoblastic rosettes suggesting that ETANTR and EBL comprise a single biological entity. FISH analysis of the 19q13.42 locus is a very promising diagnostic tool to identify a subset of primitive neuroectodermal tumors with distinct morphology, biology, and clinical behavior.

Keywords

Embryonal brain tumor ETANTR Ependymoblastoma 19q13 Molecular diagnosis WHO classification of CNS tumors

Copyright information

© Springer-Verlag 2010