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60th Annual Meeting of the German Society for Neuropathology and Neuroanatomy (DGNN)

German Society for Neuropathology and Neuroanatomy

26. - 28.08.2015, Berlin

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Papillary tumor of the pineal region: A distinct molecular entity

Meeting Abstract

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  • presenting/speaker Stephanie Heim - University Hospital Münster, Institute of Neuropathology, Münster, Germany
  • Martin Sill - DKFZ, Division of Biostatistics, Heidelberg, Germany
  • David T.W. Jones - DKFZ, Division of Pediatric Neurooncology, Heidelberg, Germany
  • Alexandre Vasiljevic - Hospices Civils de Lyon, Centre de Pathologie et Neuropathologie Est, Bron, France; Université de Lyon, CRNL, INSERM U1028, CNRS UMR 5292, Lyon, France
  • Anne Jouvet - Hospices Civils de Lyon, Centre de Pathologie et Neuropathologie Est, Bron, France; Université de Lyon, CRNL, INSERM U1028, CNRS UMR 5292, Lyon, France
  • Michelle Fèvre-Montange - Université de Lyon, CRNL, INSERM U1028, CNRS UMR 5292, Lyon, France
  • Pieter Wesseling - Radboud University Medical Center, Department of Pathology, Nijmegen, Netherlands; VU University Medical Center, Department of Pathology, Amsterdam, Netherlands
  • Rudi Beschorner - University of Tübingen, Department of Neuropathology, Tübingen, Germany
  • Michel Mittelbronn - Goethe University, Institute of Neurology (Edinger Institute), Frankfurt, Germany
  • Patricia Kohlhof - Klinikum Stuttgart, Department of Pathology, Stuttgart, Germany
  • Volker Hovestadt - DKFZ, Division of Molecular Genetics, Heidelberg, Germany
  • Pascal Johann - DKFZ, Division of Pediatric Neurooncology, Heidelberg, Germany; University Hospital Heidelberg, Department of Pediatric Oncology and Hematology, Heidelberg, Germany
  • Marcel Kool - DKFZ, Division of Pediatric Neurooncology, Heidelberg, Germany; University Hospital Heidelberg, Department of Pediatric Oncology and Hematology, Heidelberg, Germany
  • Kristian W. Pajtler - DKFZ, Division of Pediatric Neurooncology, Heidelberg, Germany
  • Andrey Korshunov - University Hospital Heidelberg, Department of Neuropathology, Heidelberg, Germany; DKFZ, Clinical Cooperation Unit Neuropathology, Heidelberg, Germany; DKFZ, German Cancer Consortium (DKTK), Heidelberg, Germany
  • Vincent Ruland - University Hospital Münster, Institute of Neuropathology, Münster, Germany
  • Christian Thomas - University Hospital Münster, Institute of Neuropathology, Münster, Germany
  • Hendrik Witt - DKFZ, Division of Pediatric Neurooncology, Heidelberg, Germany; University Hospital Heidelberg, Department of Pediatric Oncology and Hematology, Heidelberg, Germany
  • Andreas von Deimling - University Hospital Heidelberg, Department of Neuropathology, Heidelberg, Germany; DKFZ, Clinical Cooperation Unit Neuropathology, Heidelberg, Germany; DKFZ, German Cancer Consortium (DKTK), Heidelberg, Germany
  • Werner Paulus - University Hospital Münster, Institute of Neuropathology, Münster, Germany
  • Stefan M. Pfister - DKFZ, Division of Pediatric Neurooncology, Heidelberg, Germany; DKFZ, German Cancer Consortium (DKTK), Heidelberg, Germany; University Hospital Heidelberg, Department of Pediatric Oncology and Hematology, Heidelberg, Germany
  • David Capper - University Hospital Heidelberg, Department of Neuropathology, Heidelberg, Germany; DKFZ, Clinical Cooperation Unit Neuropathology, Heidelberg, Germany; DKFZ, German Cancer Consortium (DKTK), Heidelberg, Germany
  • corresponding author Martin Hasselblatt - University Hospital Münster, Institute of Neuropathology, Münster, Germany

Deutsche Gesellschaft für Neuropathologie und Neuroanatomie. 60th Annual Meeting of the German Society for Neuropathology and Neuroanatomy (DGNN). Berlin, 26.-28.08.2015. Düsseldorf: German Medical Science GMS Publishing House; 2015. Doc15dgnnNO6

doi: 10.3205/15dgnn14, urn:nbn:de:0183-15dgnn143

Published: August 25, 2015

© 2015 Heim et al.
This is an Open Access article distributed under the terms of the Creative Commons Attribution 4.0 License. See license information at http://creativecommons.org/licenses/by/4.0/.

Outline

Text

Question: Papillary tumor of the pineal region (PTPR) is a neuroepithelial brain tumor which might pose diagnostic difficulties and recurs often. Little is known about underlying molecular alterations.

Methods: Chromosomal copy number alterations (Affymetrix Oncoscan MIP SNP Array), DNA methylation patterns (Illumina 450k Array) and mRNA expression profiles (Affymetrix GeneChip U133 Plus 2.0) were examined in a series of 24 PTPR.

Results: Losses of chromosome 10 were identified in all PTPR examined. Losses of chromosome 3 and 22q (54%) as well as gains of chromosomes 8p (62%) and 12 (46%) were also common. DNA methylation profiling reliably distinguished PTPR from ependymomas and pineal parenchymal tumors of intermediate differentiation. PTPR could be divided into two subgroups based on methylation pattern, PTPR group 2 showing higher global methylation and a tendency towards shorter progression-free survival (p=0.06). Genes over-expressed in PTPR as compared to ependymal tumors included SPDEF, known to be expressed in the rodent subcommissural organ. Notable SPDEF protein expression was encountered in 15/19 PTPR as compared to only 2/36 ependymal tumors, 2/19 choroid plexus tumors and 0/23 samples of other CNS tumors entities.

Conclusion: PTPR show typical chromosomal alterations as well as distinct DNA methylation and expression profiles, which might serve as useful diagnostic tools.