PATZ1 fusions define a novel molecularly distinct neuroepithelial tumor entity with a broad histological spectrum

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  • Karam T. Alhalabi
  • Damian Stichel
  • Philipp Sievers
  • Heike Peterziel
  • Alexander C. Sommerkamp
  • Dominik Sturm
  • Andrea Wittmann
  • Martin Sill
  • Natalie Jäger
  • Pengbo Beck
  • Kristian W. Pajtler
  • Matija Snuderl
  • George Jour
  • Michael Delorenzo
  • Allison M. Martin
  • Adam Levy
  • Nagma Dalvi
  • Jordan R. Hansford
  • Nicholas G. Gottardo
  • Emmanuelle Uro-Coste
  • Claude Alain Maurage
  • Catherine Godfraind
  • Fanny Vandenbos
  • Torsten Pietsch
  • Christof Kramm
  • Maria Filippidou
  • Antonis Kattamis
  • Chris Jones
  • Ingrid Øra
  • Torben Stamm Mikkelsen
  • Michal Zapotocky
  • David Sumerauer
  • Martin McCabe
  • Pieter Wesseling
  • Bastiaan B.J. Tops
  • Mariëtte E.G. Kranendonk
  • Matthias A. Karajannis
  • Nancy Bouvier
  • Elli Papaemmanuil
  • Hildegard Dohmen
  • Till Acker
  • Katja von Hoff
  • Simone Schmid
  • Evelina Miele
  • Katharina Filipski
  • Lidija Kitanovski
  • Lenka Krskova
  • Johannes Gojo
  • Christine Haberler
  • Frank Alvaro
  • Jonas Ecker
  • Florian Selt
  • Till Milde
  • Olaf Witt
  • Ina Oehme
  • Marcel Kool
  • Andreas von Deimling
  • Andrey Korshunov
  • Stefan M. Pfister
  • Felix Sahm
  • David T.W. Jones

Large-scale molecular profiling studies in recent years have shown that central nervous system (CNS) tumors display a much greater heterogeneity in terms of molecularly distinct entities, cellular origins and genetic drivers than anticipated from histological assessment. DNA methylation profiling has emerged as a useful tool for robust tumor classification, providing new insights into these heterogeneous molecular classes. This is particularly true for rare CNS tumors with a broad morphological spectrum, which are not possible to assign as separate entities based on histological similarity alone. Here, we describe a molecularly distinct subset of predominantly pediatric CNS neoplasms (n = 60) that harbor PATZ1 fusions. The original histological diagnoses of these tumors covered a wide spectrum of tumor types and malignancy grades. While the single most common diagnosis was glioblastoma (GBM), clinical data of the PATZ1-fused tumors showed a better prognosis than typical GBM, despite frequent relapses. RNA sequencing revealed recurrent MN1:PATZ1 or EWSR1:PATZ1 fusions related to (often extensive) copy number variations on chromosome 22, where PATZ1 and the two fusion partners are located. These fusions have individually been reported in a number of glial/glioneuronal tumors, as well as extracranial sarcomas. We show here that they are more common than previously acknowledged, and together define a biologically distinct CNS tumor type with high expression of neural development markers such as PAX2, GATA2 and IGF2. Drug screening performed on the MN1:PATZ1 fusion-bearing KS-1 brain tumor cell line revealed preliminary candidates for further study. In summary, PATZ1 fusions define a molecular class of histologically polyphenotypic neuroepithelial tumors, which show an intermediate prognosis under current treatment regimens.

Original languageEnglish
JournalActa Neuropathologica
Volume142
Pages (from-to)841–857
ISSN0001-6322
DOIs
Publication statusPublished - 2021

Bibliographical note

Publisher Copyright:
© 2021, The Author(s).

    Research areas

  • Brain tumor, EWSR1, Gene fusion, MN1, Neuroepithelial, Neurooncology, PATZ1, Pediatric

ID: 278483625