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Embryonal tumor with abundant neuropil and true rosettes (ETANTR), ependymoblastoma,and medulloepithelioma share molecular similarity and comprise a single clinicopathological entity |
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| Authors: | Andrey Korshunov Dominik Sturm Marina Ryzhova Volker Hovestadt Marco Gessi David T W Jones Marc Remke Paul Northcott Arie Perry Daniel Picard Marc Rosenblum Manila Antonelli Eleonora Aronica Ulrich Schüller Martin Hasselblatt Adelheid Woehrer Olga Zheludkova Ella Kumirova Stephanie Puget Michael D Taylor Felice Giangaspero V Peter Collins Andreas von Deimling Peter Lichter Annie Huang Torsten Pietsch Stefan M Pfister Marcel Kool |
| Institution: | 1. Clinical Cooperation Unit Neuropathology, German Cancer Research Center (DKFZ), Heidelberg, Germany 2. Department of Neuropathology, Heidelberg University Hospital, Heidelberg, Germany 3. Division of Pediatric Neurooncology, German Cancer Research Center (DKFZ), Im Neuenheimer Feld 280, 69120, Heidelberg, Germany 4. Department of Pediatric Hematology and Oncology, Heidelberg University Hospital, Heidelberg, Germany 5. Department of Neuropathology, NN Burdenko Neurosurgical Institute, Moscow, Russia 6. Division of Molecular Genetics, German Cancer Research Center (DKFZ), Heidelberg, Germany 7. Department of Neuropathology, University of Bonn, Bonn, Germany 8. Arthur and Sonia Labatt Brain Tumor Research Centre, Hospital for Sick Children, University of Toronto, Toronto, Canada 9. Departments of Pathology and Neurological Surgery, Brain Tumor Research Center, University of California, San Francisco, USA 10. Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, USA 11. Department of Radiological, Oncological and Anatomic Pathology Sciences, Università Sapienza, Rome, Italy 13. Department of Neuropathology, Academic Medical Center, Amsterdam, The Netherlands 14. Center of Neuropathology, Ludwig-Maximilians University, Munich, Germany 15. Institute of Neuropathology, University Hospital Münster, Münster, Germany 16. Institute of Neurology, Medical University of Vienna, Vienna, Austria 17. Department of Pediatric Neurooncology, Dmitry Rogachev Federal Research Center of Pediatric Hematology, Oncology and Immunology, Moscow, Russia 18. Department of Pediatric Neurosurgery, Necker Hospital, Université Paris Descartes, Sorbonne Paris Cité, Paris, France 12. IRCCS Neuromed, Pozzilli, Italy 19. Department of Pathology, University of Cambridge, Cambridge, UK |
| Abstract: | Three histological variants are known within the family of embryonal rosette-forming neuroepithelial brain tumors. These include embryonal tumor with abundant neuropil and true rosettes (ETANTR), ependymoblastoma (EBL), and medulloepithelioma (MEPL). In this study, we performed a comprehensive clinical, pathological, and molecular analysis of 97 cases of these rare brain neoplasms, including genome-wide DNA methylation and copy number profiling of 41 tumors. We identified uniform molecular signatures in all tumors irrespective of histological patterns, indicating that ETANTR, EBL, and MEPL comprise a single biological entity. As such, future WHO classification schemes should consider lumping these variants into a single diagnostic category, such as embryonal tumor with multilayered rosettes (ETMR). We recommend combined LIN28A immunohistochemistry and FISH analysis of the 19q13.42 locus for molecular diagnosis of this tumor category. Recognition of this distinct pediatric brain tumor entity based on the fact that the three histological variants are molecularly and clinically uniform will help to distinguish ETMR from other embryonal CNS tumors and to better understand the biology of these highly aggressive and therapy-resistant pediatric CNS malignancies, possibly leading to alternate treatment strategies. |
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