DNA methylation-based classification of sinonasal tumors

Author:

Jurmeister Philipp,Glöß Stefanie,Roller Renée,Leitheiser Maximilian,Schmid Simone,Mochmann Liliana H.,Payá Capilla Emma,Fritz Rebecca,Dittmayer Carsten,Friedrich Corinna,Thieme Anne,Keyl Philipp,Jarosch Armin,Schallenberg Simon,Bläker Hendrik,Hoffmann Inga,Vollbrecht Claudia,Lehmann Annika,Hummel Michael,Heim Daniel,Haji Mohamed,Harter Patrick,Englert BenjaminORCID,Frank StephanORCID,Hench Jürgen,Paulus Werner,Hasselblatt Martin,Hartmann WolfgangORCID,Dohmen Hildegard,Keber UrsulaORCID,Jank PaulORCID,Denkert CarstenORCID,Stadelmann ChristineORCID,Bremmer Felix,Richter Annika,Wefers Annika,Ribbat-Idel Julika,Perner Sven,Idel Christian,Chiariotti Lorenzo,Della Monica Rosa,Marinelli Alfredo,Schüller UlrichORCID,Bockmayr MichaelORCID,Liu Jacklyn,Lund Valerie J.,Forster Martin,Lechner MattORCID,Lorenzo-Guerra Sara L.,Hermsen MarioORCID,Johann Pascal D.,Agaimy AbbasORCID,Seegerer PhilippORCID,Koch Arend,Heppner FrankORCID,Pfister Stefan M.,Jones David T. W.,Sill Martin,von Deimling AndreasORCID,Snuderl Matija,Müller Klaus-Robert,Forgó Erna,Howitt Brooke E.ORCID,Mertins PhilippORCID,Klauschen Frederick,Capper DavidORCID

Abstract

AbstractThe 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.

Publisher

Springer Science and Business Media LLC

Subject

General Physics and Astronomy,General Biochemistry, Genetics and Molecular Biology,General Chemistry,Multidisciplinary

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