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

Andrey Korshunov, Marc Remke, Marco Gessi, Marina Ryzhova, Thomas Hielscher, Hendrik Witt, Vivienne Tobias, Anna Maria Buccoliero, Iacopo Sardi, Marina Paola Gardiman, Jose Bonnin, Bernd Scheithauer, Andreas E. Kulozik, Olaf Witt, Sverre Mork, Andreas Von Deimling, Otmar D. Wiestler, Felice Giangaspero, Marc Rosenblum, Torsten PietschPeter Lichter, Stefan M. Pflster

Research output: Contribution to journalArticle

90 Scopus citations

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 19q 13.42 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 19q 13.42 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.

Original languageEnglish (US)
Pages (from-to)253-260
Number of pages8
JournalActa Neuropathologica
Volume120
Issue number2
DOIs
StatePublished - Aug 2010

Keywords

  • 19q 13
  • Embryonal brain tumor
  • Ependymoblastoma
  • ETANTR
  • Molecular diagnosis
  • WHO classification of CNS tumors

ASJC Scopus subject areas

  • Clinical Neurology
  • Pathology and Forensic Medicine
  • Cellular and Molecular Neuroscience

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    Korshunov, A., Remke, M., Gessi, M., Ryzhova, M., Hielscher, T., Witt, H., Tobias, V., Maria Buccoliero, A., Sardi, I., Paola Gardiman, M., Bonnin, J., Scheithauer, B., Kulozik, A. E., Witt, O., Mork, S., Von Deimling, A., Wiestler, O. D., Giangaspero, F., Rosenblum, M., ... Pflster, S. M. (2010). Focal genomic amplification at 19q13.42 comprises a powerful diagnostic marker for embryonal tumors with ependymoblastic rosettes. Acta Neuropathologica, 120(2), 253-260. https://doi.org/10.1007/s00401-010-0688-8