Papillary Tumor of the Pineal Region: A Distinct Molecular Entity

被引：37

作者：

Heim, Stephanie ^{[1
]}

Sill, Martin ^{[3
]}

Jones, David T. W. ^{[4
]}

Vasiljevic, Alexandre ^{[13
,14
]}

Jouvet, Anne ^{[13
,14
]}

Fevre-Montange, Michelle ^{[14
]}

Wesseling, Pieter ^{[15
,16
]}

Beschorner, Rudi ^{[10
]}

Mittelbronn, Michel ^{[11
]}

Kohlhof, Patricia ^{[12
]}

Hovestadt, Volker ^{[5
]}

Johann, Pascal ^{[4
,8
]}

Kool, Marcel ^{[4
,8
]}

Pajtler, Kristian W. ^{[4
]}

Korshunov, Andrey ^{[6
,7
,9
]}

Ruland, Vincent ^{[1
]}

Sperveslage, Jan ^{[2
]}

Thomas, Christian ^{[1
]}

Witt, Hendrik ^{[4
,8
]}

von Deimling, Andreas ^{[6
,7
,9
]}

Paulus, Werner ^{[1
]}

Pfister, Stefan M. ^{[4
,7
,8
]}

Capper, David ^{[6
,7
,9
]}

Hasselblatt, Martin ^{[1
]}

机构：

[1] Univ Hosp Munster, Inst Neuropathol, Munster, Germany

[2] Univ Hosp Munster, Gerhard Domagk Inst Pathol, Munster, Germany

[3] German Canc Res Ctr, Div Biostat, Heidelberg, Germany

[4] German Canc Res Ctr, Div Pediat Neurooncol, Heidelberg, Germany

[5] German Canc Res Ctr, Div Mol Genet, Heidelberg, Germany

[6] German Canc Res Ctr, Clin Cooperat Unit Neuropathol, Heidelberg, Germany

[7] German Canc Res Ctr, German Canc Consortium DKTK, Heidelberg, Germany

[8] Univ Heidelberg Hosp, Dept Pediat Oncol & Hematol, Heidelberg, Germany

[9] Univ Heidelberg Hosp, Dept Neuropathol, Heidelberg, Germany

[10] Univ Tubingen, Inst Pathol & Neuropathol, Dept Neuropathol, Tubingen, Germany

[11] Goethe Univ Frankfurt, Inst Neurol, Edinger Inst, D-60054 Frankfurt, Germany

[12] Klinikum Stuttgart, Dept Pathol, Stuttgart, Germany

[13] Hosp Civils Lyon, Grp Hosp Est, Ctr Biol & Pathol Est, Ctr Pathol & Neuropathol Est, Bron, France

[14] Univ Lyon, INSERM, CRNL,UMR 5292, U1028,CNRS,Equipe Neurooncol & Neuroinflammat, Lyon, France

[15] Radboud Univ Nijmegen, Med Ctr, Dept Pathol, NL-6525 ED Nijmegen, Netherlands

[16] Vrije Univ Amsterdam, Med Ctr, Dept Pathol, Amsterdam, Netherlands

来源：

BRAIN PATHOLOGY | 2016年 / 26卷 / 02期

关键词：

copy number alterations; DNA methylation; ependymoma; mRNA expression; papillary tumor of the pineal region; prognosis; SPDEF; MUTATIONS; SUBGROUPS; PROGNOSIS; FEATURES; PATHWAY;

D O I：

10.1111/bpa.12282

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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.

引用

页码：199 / 205

页数：7

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