Papillary tumor of the pineal region: A distinct molecular entity

Stephanie Heim, Martin Sill, David T.W. Jones, Alexandre Vasiljevic, Anne Jouvet, Michelle Fèvre-Montange, Pieter Wesseling, Rudi Beschorner, Michel Mittelbronn, Patricia Kohlhof, Volker Hovestadt, Pascal Johann, Marcel Kool, Kristian W. Pajtler, Andrey Korshunov, Vincent Ruland, Jan Sperveslage, Christian Thomas, Hendrik Witt, Andreas Von DeimlingWerner Paulus, Stefan M. Pfister, David Capper, Martin Hasselblatt

Research output: Contribution to journalArticlepeer-review

34 Citations (Scopus)


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. We therefore investigated chromosomal copy number alterations, DNA methylation patterns and mRNA expression profiles in a series of 24 PTPRs. Losses of chromosome 10 were identified in all 13 PTPRs examined. Losses of chromosomes 3 and 22q (54%) as well as gains of chromosomes 8p (62%) and 12 (46%) were also common. DNA methylation profiling using Illumina 450k arrays 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 toward shorter progression-free survival (P = 0.06). Genes overexpressed in PTPR as compared with ependymal tumors included SPDEF, known to be expressed in the rodent subcommissural organ. Notable SPDEF protein expression was encountered in 15/19 PTPRs as compared with only 2/36 ependymal tumors, 2/19 choroid plexus tumors and 0/23 samples of other central nervous system (CNS) tumor entities. In conclusion, PTPRs show typical chromosomal alterations as well as distinct DNA methylation and expression profiles, which might serve as useful diagnostic tools.

Original languageEnglish
Pages (from-to)199-205
Number of pages7
JournalBrain Pathology
Issue number2
Publication statusPublished - 1 Mar 2016
Externally publishedYes


  • copy number alterations
  • DNA methylation
  • ependymoma
  • mRNA expression
  • papillary tumor of the pineal region
  • prognosis


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