Papillary Tumor of the Pineal Region: A Distinct Molecular Entity
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...
Saved in:
Published in | Brain pathology (Zurich, Switzerland) Vol. 26; no. 2; pp. 199 - 205 |
---|---|
Main Authors | , , , , , , , , , , , , , , , , , , , , , , , |
Format | Journal Article |
Language | English |
Published |
Switzerland
Blackwell Publishing Ltd
01.03.2016
John Wiley & Sons, Inc John Wiley and Sons Inc |
Subjects | |
Online Access | Get full text |
Cover
Loading…
Summary: | 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. |
---|---|
Bibliography: | Figure S1. Differential methylation in PTPR subgroups. Table S1. Detailed patients' characteristics. Table S2. Methylation profiling. Table S3. Expression profiling. Innovative Medizinische Forschung Münster - No. IMF HA 221211 ArticleID:BPA12282 German Cancer Research Center-Heidelberg Center for Personalized Oncology (DKFZ-HIPO) ark:/67375/WNG-X08V3JWJ-2 istex:EB3D1404D9BA878A54B4E06BBF737F69BFB62918 ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23 These authors contributed equally to this work. |
ISSN: | 1015-6305 1750-3639 |
DOI: | 10.1111/bpa.12282 |