CNS Embryonal Tumor with PLAGL Amplification, a New Tumor Type in Children and Adolescents: Insights from a Comprehensive MRI Analysis.

AJNR Am J Neuroradiol

From the Inst. of Neuroradiology, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Germany (T.A.); Dept. of Neuroradiology, University Hospital Augsburg, Germany (B.B.); Neuroradiological Reference Center for the pediatric brain tumor (HIT) studies of the German Society of Pediatric Oncology and Hematology, Faculty of Medicine, University Augsburg, Augsburg, Germany (B.B.); Service de Neurochirurgie B, CHU de Bordeaux, University of Bourdeaux, France (E.J.); Univ. Bordeaux, Bordeaux INP, CNRS, IMB, UMR 5251, Talence, France (E.J.); Institut de Pathologie Multisite-Site Est, Groupement Hospitalier Est, Hospices Civils de Lyon, Lyon, France (F.T., M.D., V.A.); Aix- Marseille Univ, APHM, CNRS, INP, Inst Neurophysiopathol, CHU Timone, Service d'Anatomie Pathologique et de Neuropathologie, Marseille, France (FB.D.); Dept. of Diagnostic and Interventional Neuroradiology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany (G.E.); Dept. of Clinical Radiology, Kuopio University Hospital, Kuopio, Finland (H.J.); Inst. of Clinical Medicine, University of Eastern Finland, Kuopio, Finland (H.J.); Dept. of Pediatric Oncology/Hematology/Immunology, Olgahospital, Klinikum Stuttgart, Stuttgart, Germany (K.E.); Murdoch Children's Research Inst., The Royal Children's Hospital, Flemington Road, Parkville, Victoria, Australia (L.LE); Children's Cancer Centre, The Royal Children's Hospital, Flemington Road, Parkville, Victoria, 3052, Australia (L.LE); Dept. of Paediatrics, The University of Melbourne, Parkville, Victoria, Australia (L.LE); Crown Princess Victoria Children's Hospital, Linköping University Hospital, Linköping, Sweden (N.P.); Dept. of Biomedical and Clinical Sciences, Linköping University, Linköping, Sweden (N.P.); Dept. of Pediatric Oncology and Hematology, Skåne University Hospital, Lund University, Lund, Sweden (Ø.I); Dept. of Pediatrics, Pediatric Hematology and Oncology Ward, Kuopio University Hospital and Inst. of Clinical Medicine, University of Eastern Finland, Kuopio, Finland (P.J.); Dept. of Clinical Pathology, Kuopio University Hospital and Unit of Pathology, Inst. of Clinical Medicine, University of Eastern Finland, Kuopio, Finland (R.T.); Dept. of Neuro-Oncology, Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands (R.RE.); Dept. of Hematology-Oncology, Valley Children's Hospital, Madera, CA, USA (S.D.); Rare Cancers Genomics Team, Genomic Epidemiology Branch, International Agency for Research on Cancer/World Health Organization, Lyon, France (S-O.A.); Inst. of Neuropathology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany (W.A.K.); Mildred Scheel Cancer Career Center HaTriCS4, University Medical Center Hamburg-Eppendorf, Hamburg, Germany (W.A.K.); Dept. of Pathology and Molecular Medicine, Second Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czech Republic (Z.J.); Division of Pediatric Glioma Research, Hopp Children's Cancer Center Heidelberg (KiTZ), Heidelberg, Germany (J.D.T.W., K.M.K.); Division of Pediatric Glioma Research (B360), German Cancer Research Center (DKFZ), Heidelberg, Germany (J.D.T.W., K.M.K.); National Center for Tumor Diseases (NCT), NCT Heidelberg, a partnership between DKFZ and Heidelberg University Hospital, Germany (J.D.T.W., K.M.K.); Dept. of Pediatric Oncology and Hematology, Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Inst. of Health, Berlin, Germany (V.H.K.); Dept. of Paediatric and Adolescent Medicine, Aarhus University Hospital, Aarhus, Denmark (V.H.K.); (European Society for Paediatric Oncology (SIOPE)-Brain Tumour Group.

Published: September 2024

Background And Purpose: CNS embryonal tumor with amplification (ET, PLAGL) is a newly identified, highly malignant pediatric tumor. Systematic MRI descriptions of ET, PLAGL are currently lacking.

Materials And Methods: MRI data from 19 treatment-naïve patients with confirmed ET, PLAGL were analyzed. Evaluation focused on anatomical involvement, tumor localization, MRI signal characteristics, DWI behavior, and the presence of necrosis and hemorrhage. Descriptive statistics (median, interquartile range, percentage) were assessed.

Results: Ten patients had and nine amplifications. The solid components of the tumors were often multinodular with heterogeneous enhancement (mild to intermediate in 47% and intermediate to strong in 47% of cases). Non-solid components included cysts in 47% and necrosis in 84% of the cases. The tumors showed heterogeneous T2WI hyper-and isointensity (74%), relatively little diffusion restriction (ADC values < contralateral normal-appearing WM in 36% of cases with available DWI), and tendencies towards hemorrhage/calcification (42%). No reliable distinction was found between and amplified tumors or compared to other embryonal CNS tumors.

Conclusions: The study contributes to understanding the imaging characteristics of ET, PLAGL. It underscores the need for collaboration in studying rare pediatric tumors and advocates for the use of harmonized imaging protocols for better characterization.

Abbreviations: ATRT= atypical teratoid/rhabdoid tumor; ETMR= embryonal tumor with multilayered rosettes; ET, PLAGL= CNS embryonal tumor with PLAGL amplification; EVD= external ventricular drain; IQR: interquartile range; pleomorphic adenoma gene-like 1; pleomorphic adenoma gene-like 2; WHO= World Health Organization.

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