DNA methylation-based classification of sinonasal tumors

Philipp Jurmeister (), Stefanie Glöß, Renée Roller, Maximilian Leitheiser, Simone Schmid, Liliana H. Mochmann, Emma Payá Capilla, Rebecca Fritz, Carsten Dittmayer, Corinna Friedrich, Anne Thieme, Philipp Keyl, Armin Jarosch, Simon Schallenberg, Hendrik Bläker, Inga Hoffmann, Claudia Vollbrecht, Annika Lehmann, Michael Hummel, Daniel Heim, Mohamed Haji, Patrick Harter, Benjamin Englert, Stephan Frank, Jürgen Hench, Werner Paulus, Martin Hasselblatt, Wolfgang Hartmann, Hildegard Dohmen, Ursula Keber, Paul Jank, Carsten Denkert, Christine Stadelmann, Felix Bremmer, Annika Richter, Annika Wefers, Julika Ribbat-Idel, Sven Perner, Christian Idel, Lorenzo Chiariotti, Rosa Monica, Alfredo Marinelli, Ulrich Schüller, Michael Bockmayr, Jacklyn Liu, Valerie J. Lund, Martin Forster, Matt Lechner, Sara L. Lorenzo-Guerra, Mario Hermsen, Pascal D. Johann, Abbas Agaimy, Philipp Seegerer, Arend Koch, Frank Heppner, Stefan M. Pfister, David T. W. Jones, Martin Sill, Andreas Deimling, Matija Snuderl, Klaus-Robert Müller, Erna Forgó, Brooke E. Howitt, Philipp Mertins, Frederick Klauschen and David Capper
Additional contact information
Philipp Jurmeister: Ludwig Maximilians University Hospital Munich
Stefanie Glöß: Charité – Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Department of Neuropathology
Renée Roller: Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin
Maximilian Leitheiser: Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin
Simone Schmid: Partner Site Berlin, and German Cancer Research Center (DKFZ)
Liliana H. Mochmann: Ludwig Maximilians University Hospital Munich
Emma Payá Capilla: Ludwig Maximilians University Hospital Munich
Rebecca Fritz: Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin
Carsten Dittmayer: Charité – Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Department of Neuropathology
Corinna Friedrich: Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin
Anne Thieme: Partner Site Berlin, and German Cancer Research Center (DKFZ)
Philipp Keyl: Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin
Armin Jarosch: Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin
Simon Schallenberg: Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin
Hendrik Bläker: University Hospital Leipzig
Inga Hoffmann: Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin
Claudia Vollbrecht: Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin
Annika Lehmann: Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin
Michael Hummel: Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin
Daniel Heim: Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin
Mohamed Haji: Berlin Institute of Health (BIH) and Max Delbrück Center for Molecular Medicine in the Helmholtz Association (MDC)
Patrick Harter: Partner Site Munich, and German Cancer Research Center (DKFZ)
Benjamin Englert: Ludwig Maximilians University Hospital Munich
Stephan Frank: Basel University Hospital
Jürgen Hench: Basel University Hospital
Werner Paulus: University Hospital Münster
Martin Hasselblatt: University Hospital Münster
Wolfgang Hartmann: University Hospital Münster
Hildegard Dohmen: University of Giessen
Ursula Keber: Philipps-University
Paul Jank: Philipps-University Marburg and University Hospital Marburg
Carsten Denkert: Philipps-University Marburg and University Hospital Marburg
Christine Stadelmann: University Medical Centre Göttingen
Felix Bremmer: University Medical Center
Annika Richter: University Medical Center
Annika Wefers: University Hospital Heidelberg
Julika Ribbat-Idel: University of Luebeck and University Hospital Schleswig-Holstein, Campus Luebeck
Sven Perner: University of Luebeck and University Hospital Schleswig-Holstein, Campus Luebeck
Christian Idel: University Hospital Schleswig-Holstein, Campus Lübeck
Lorenzo Chiariotti: Università degli Studi di Napoli Federico II
Rosa Monica: CEINGE Biotecnologie Avanzate
Alfredo Marinelli: University Federico II
Ulrich Schüller: University Medical Center Hamburg-Eppendorf
Michael Bockmayr: Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin
Jacklyn Liu: University College London
Valerie J. Lund: University College London
Martin Forster: University College London
Matt Lechner: University College London
Sara L. Lorenzo-Guerra: Instituto de Investigación Sanitaria del Principado de Asturias (ISPA)
Mario Hermsen: Instituto de Investigación Sanitaria del Principado de Asturias (ISPA)
Pascal D. Johann: University Childrens’ Hospital Augsburg and EU-RHAB Registry
Abbas Agaimy: Friedrich-Alexander-University Erlangen-Nürnberg, University Hospital
Philipp Seegerer: Technical University of Berlin
Arend Koch: Charité – Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Department of Neuropathology
Frank Heppner: Partner Site Berlin, and German Cancer Research Center (DKFZ)
Stefan M. Pfister: Hopp Children’s Cancer Center Heidelberg (KiTZ)
David T. W. Jones: Hopp Children’s Cancer Center Heidelberg (KiTZ)
Martin Sill: Hopp Children’s Cancer Center Heidelberg (KiTZ)
Andreas Deimling: University Hospital Heidelberg
Matija Snuderl: Division of Neuropathology, NYU Langone Health
Klaus-Robert Müller: Technical University of Berlin
Erna Forgó: Stanford University School of Medicine
Brooke E. Howitt: Stanford University School of Medicine
Philipp Mertins: Berlin Institute of Health (BIH) and Max Delbrück Center for Molecular Medicine in the Helmholtz Association (MDC)
Frederick Klauschen: Ludwig Maximilians University Hospital Munich
David Capper: Partner Site Berlin, and German Cancer Research Center (DKFZ)

Nature Communications, 2022, vol. 13, issue 1, 1-14

Abstract: Abstract The diagnosis of sinonasal tumors is challenging due to a heterogeneous spectrum of various differential diagnoses as well as poorly defined, disputed entities such as sinonasal undifferentiated carcinomas (SNUCs). In this study, we apply a machine learning algorithm based on DNA methylation patterns to classify sinonasal tumors with clinical-grade reliability. We further show that sinonasal tumors with SNUC morphology are not as undifferentiated as their current terminology suggests but rather reassigned to four distinct molecular classes defined by epigenetic, mutational and proteomic profiles. This includes two classes with neuroendocrine differentiation, characterized by IDH2 or SMARCA4/ARID1A mutations with an overall favorable clinical course, one class composed of highly aggressive SMARCB1-deficient carcinomas and another class with tumors that represent potentially previously misclassified adenoid cystic carcinomas. Our findings can aid in improving the diagnostic classification of sinonasal tumors and could help to change the current perception of SNUCs.

Date: 2022
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DOI: 10.1038/s41467-022-34815-3

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