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 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.
['Heim|Stephanie|S|', 'Sill|Martin|M|', 'Jones|David T W|DT|', 'Vasiljevic|Alexandre|A|', 'Jouvet|Anne|A|', 'Fèvre-Montange|Michelle|M|', 'Wesseling|Pieter|P|', 'Beschorner|Rudi|R|', 'Mittelbronn|Michel|M|', 'Kohlhof|Patricia|P|', 'Hovestadt|Volker|V|', 'Johann|Pascal|P|', 'Kool|Marcel|M|', 'Pajtler|Kristian W|KW|', 'Korshunov|Andrey|A|', 'Ruland|Vincent|V|', 'Sperveslage|Jan|J|', 'Thomas|Christian|C|', 'Witt|Hendrik|H|', 'von Deimling|Andreas|A|', 'Paulus|Werner|W|', 'Pfister|Stefan M|SM|', 'Capper|David|D|', 'Hasselblatt|Martin|M|']
D000293:Adolescent D000328:Adult D001932:Brain Neoplasms D002648:Child D002675:Child, Preschool D016545:Choroid Plexus Neoplasms D002869:Chromosome Aberrations D019175:DNA Methylation D004252:DNA Mutational Analysis D018572:Disease-Free Survival D004806:Ependymoma D005260:Female D006801:Humans D008297:Male D008875:Middle Aged D009364:Neoplasm Recurrence, Local D010870:Pineal Gland D010871:Pinealoma D020641:Polymorphism, Single Nucleotide D012333:RNA, Messenger
papillary tumor of the pineal region copy number alterations DNA methylation mRNA expression ependymoma SPDEF prognosis