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Therapeutic implications of improved molecular diagnostics for rare CNS embryonal tumor entities: results of an international, retrospective study

Authors
 Katja von Hoff  ;  Christine Haberler  ;  Felix Schmitt-Hoffner  ;  Elizabeth Schepke  ;  Teresa de Rojas  ;  Sandra Jacobs  ;  Michal Zapotocky  ;  David Sumerauer  ;  Marta Perek-Polnik  ;  Christelle Dufour  ;  Dannis van Vuurden  ;  Irene Slavc  ;  Johannes Gojo  ;  Jessica C Pickles  ;  Nicolas U Gerber  ;  Maura Massimino  ;  Maria Joao Gil-da-Costa  ;  Miklos Garami  ;  Ella Kumirova  ;  Astrid Sehested  ;  David Scheie  ;  Ofelia Cruz  ;  Lucas Moreno  ;  Jaeho Cho  ;  Bernward Zeller  ;  Niels Bovenschen  ;  Michael Grotzer  ;  Daniel Alderete  ;  Matija Snuderl  ;  Olga Zheludkova  ;  Andrey Golanov  ;  Konstantin Okonechnikov  ;  Martin Mynarek  ;  Björn Ole Juhnke  ;  Stefan Rutkowski  ;  Ulrich Schüller  ;  Barry Pizer  ;  Barbara von Zezschwitz  ;  Robert Kwiecien  ;  Maximilian Wechsung  ;  Frank Konietschke  ;  Eugene I Hwang  ;  Dominik Sturm  ;  Stefan M Pfister  ;  Andreas von Deimling  ;  Elisabeth J Rushing  ;  Marina Ryzhova  ;  Peter Hauser  ;  Maria Łastowska  ;  Pieter Wesseling  ;  Felice Giangaspero  ;  Cynthia Hawkins  ;  Dominique Figarella-Branger  ;  Charles Eberhart  ;  Peter Burger  ;  Marco Gessi  ;  Andrey Korshunov  ;  Tom S Jacques  ;  David Capper  ;  Torsten Pietsch  ;  Marcel Kool 
Citation
 NEURO-ONCOLOGY, Vol.23(9) : 1597-1611, 2021-09 
Journal Title
NEURO-ONCOLOGY
ISSN
 1522-8517 
Issue Date
2021-09
MeSH
Brain Neoplasms* / diagnosis ; Brain Neoplasms* / genetics ; Brain Neoplasms* / therapy ; Central Nervous System Neoplasms* / diagnosis ; Central Nervous System Neoplasms* / genetics ; Central Nervous System Neoplasms* / therapy ; Forkhead Transcription Factors ; Humans ; Neoplasms, Germ Cell and Embryonal* / diagnosis ; Neoplasms, Germ Cell and Embryonal* / genetics ; Neoplasms, Germ Cell and Embryonal* / therapy ; Neuroectodermal Tumors, Primitive* / diagnosis ; Neuroectodermal Tumors, Primitive* / genetics ; Neuroectodermal Tumors, Primitive* / therapy ; Pathology, Molecular ; Retrospective Studies
Keywords
CNS NB-FOXR2 ; CNS embryonal tumor ; CNS-PNET ; DNA methylation profiling ; ETMR
Abstract
Background: Only few data are available on treatment-associated behavior of distinct rare CNS embryonal tumor entities previously treated as "CNS-primitive neuroectodermal tumors" (CNS-PNET). Respective data on specific entities, including CNS neuroblastoma, FOXR2 activated (CNS NB-FOXR2), and embryonal tumors with multilayered rosettes (ETMR) are needed for development of differentiated treatment strategies.

Methods: Within this retrospective, international study, tumor samples of clinically well-annotated patients with the original diagnosis of CNS-PNET were analyzed using DNA methylation arrays (n = 307). Additional cases (n = 66) with DNA methylation pattern of CNS NB-FOXR2 were included irrespective of initial histological diagnosis. Pooled clinical data (n = 292) were descriptively analyzed.

Results: DNA methylation profiling of "CNS-PNET" classified 58 (19%) cases as ETMR, 57 (19%) as high-grade glioma (HGG), 36 (12%) as CNS NB-FOXR2, and 89(29%) cases were classified into 18 other entities. Sixty-seven (22%) cases did not show DNA methylation patterns similar to established CNS tumor reference classes. Best treatment results were achieved for CNS NB-FOXR2 patients (5-year PFS: 63% ± 7%, OS: 85% ± 5%, n = 63), with 35/42 progression-free survivors after upfront craniospinal irradiation (CSI) and chemotherapy. The worst outcome was seen for ETMR and HGG patients with 5-year PFS of 18% ± 6% and 22% ± 7%, and 5-year OS of 24% ± 6% and 25% ± 7%, respectively.

Conclusion: The historically reported poor outcome of CNS-PNET patients becomes highly variable when tumors are molecularly classified based on DNA methylation profiling. Patients with CNS NB-FOXR2 responded well to current treatments and a standard-risk CSI-based regimen may be prospectively evaluated. The poor outcome of ETMR across applied treatment strategies substantiates the necessity for evaluation of novel treatments.
Full Text
https://academic.oup.com/neuro-oncology/article/23/9/1597/6291389
DOI
10.1093/neuonc/noab136
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Radiation Oncology (방사선종양학교실) > 1. Journal Papers
Yonsei Authors
Cho, Jae Ho(조재호) ORCID logo https://orcid.org/0000-0001-9966-5157
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/186764
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