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.

OriginalsprogEngelsk
TidsskriftActa Neuropathologica
Vol/bind142
Sider (fra-til)841–857
ISSN0001-6322
DOI
StatusUdgivet - 2021

Bibliografisk note

Funding Information:
For technical support and expertise, we thank the German Cancer Research Centre (DKFZ) Genomics and Proteomics Core Facility, and Hai-Yen Nguyen, Laura Doerner & Moritz Leon Schalles (Department of Neuropathology, Institute of Pathology at the University Hospital Heidelberg). We gratefully acknowledge Teresa de Rojas for support in collecting clinical metadata. This work was supported by the German Childhood Cancer Foundation (“Neuropath 2.0—Increasing diagnostic accuracy in pediatric neurooncology”; DKS 2015.01), the Everest Centre for Low-Grade Paediatric Brain Tumour Research (The Brain Tumour Charity, UK; GN-000382), the German Federal Ministry of Education and Research (BMBF), and Cancéropôle Lyon Auvergne Rhône-Alpes (CLARA). DNA methylation profiling at NYU was in part supported by grants from the Friedberg Charitable Foundation, the Sohn Conference Foundation and the Making Headway Foundation (to M. Snuderl.)

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

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