Open AccessPapillary Tumor of the Pineal Region: A Distinct Molecular Entity
Author(s) -
Heim Stephanie,
Sill Martin,
Jones David T.W.,
Vasiljevic Alexandre,
Jouvet Anne,
FèvreMontange Michelle,
Wesseling Pieter,
Beschorner Rudi,
Mittelbronn Michel,
Kohlhof Patricia,
Hovestadt Volker,
Johann Pascal,
Kool Marcel,
Pajtler Kristian W.,
Korshunov Andrey,
Ruland Vincent,
Sperveslage Jan,
Thomas Christian,
Witt Hendrik,
Deimling Andreas,
Paulus Werner,
Pfister Stefan M.,
Capper David,
Hasselblatt Martin
Publication year - 2016
Publication title -
brain pathology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.986
H-Index - 132
eISSN - 1750-3639
pISSN - 1015-6305
DOI - 10.1111/bpa.12282
Subject(s) - methylation , papillary tumor , subcommissural organ , choroid plexus , biology , pathology , dna methylation , pinealoma , central nervous system , medicine , gene , gene expression , anatomy , genetics , endocrinology
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 PTPR s. Losses of chromosome 10 were identified in all 13 PTPR s 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 I llumina 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 PTPR s 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, PTPR s show typical chromosomal alterations as well as distinct DNA methylation and expression profiles, which might serve as useful diagnostic tools.