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 Deimling; Werner Paulus; Stefan M. Pfister; David Capper; Martin Hasselblatt

doi:10.1111/bpa.12282

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^*

^*Corresponding author for this work

Research output: Contribution to journal › Article › Research › peer-review

36 Citations (Scopus)

Abstract

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 language	English
Pages (from-to)	199-205
Number of pages	7
Journal	Brain Pathology
Volume	26
Issue number	2
DOIs	https://doi.org/10.1111/bpa.12282
Publication status	Published - 1 Mar 2016
Externally published	Yes

Keywords

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

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10.1111/bpa.12282

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Heim, S., Sill, M., Jones, D. T. W., Vasiljevic, A., Jouvet, A., Fèvre-Montange, M., Wesseling, P., Beschorner, R., Mittelbronn, M., Kohlhof, P., Hovestadt, V., Johann, P., Kool, M., Pajtler, K. W., Korshunov, A., Ruland, V., Sperveslage, J., Thomas, C., Witt, H., ... Hasselblatt, M. (2016). Papillary tumor of the pineal region: A distinct molecular entity. Brain Pathology, 26(2), 199-205. https://doi.org/10.1111/bpa.12282

@article{09f5ab948ebb47a3b1205086ec365683,

title = "Papillary tumor of the pineal region: A distinct molecular entity",

abstract = "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.",

keywords = "DNA methylation, SPDEF, copy number alterations, ependymoma, mRNA expression, papillary tumor of the pineal region, prognosis",

author = "Stephanie Heim and Martin Sill and Jones, {David T.W.} and Alexandre Vasiljevic and Anne Jouvet and Michelle F{\`e}vre-Montange and Pieter Wesseling and Rudi Beschorner and Michel Mittelbronn and Patricia Kohlhof and Volker Hovestadt and Pascal Johann and Marcel Kool and Pajtler, {Kristian W.} and Andrey Korshunov and Vincent Ruland and Jan Sperveslage and Christian Thomas and Hendrik Witt and {Von Deimling}, Andreas and Werner Paulus and Pfister, {Stefan M.} and David Capper and Martin Hasselblatt",

note = "Publisher Copyright: {\textcopyright} 2015 International Society of Neuropathology.",

year = "2016",

month = mar,

day = "1",

doi = "10.1111/bpa.12282",

language = "English",

volume = "26",

pages = "199--205",

journal = "Brain Pathology",

issn = "1015-6305",

publisher = "Wiley-Blackwell",

number = "2",

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Heim, S, Sill, M, Jones, DTW, Vasiljevic, A, Jouvet, A, Fèvre-Montange, M, Wesseling, P, Beschorner, R, Mittelbronn, M, Kohlhof, P, Hovestadt, V, Johann, P, Kool, M, Pajtler, KW, Korshunov, A, Ruland, V, Sperveslage, J, Thomas, C, Witt, H, Von Deimling, A, Paulus, W, Pfister, SM, Capper, D & Hasselblatt, M 2016, 'Papillary tumor of the pineal region: A distinct molecular entity', Brain Pathology, vol. 26, no. 2, pp. 199-205. https://doi.org/10.1111/bpa.12282

TY - JOUR

T1 - Papillary tumor of the pineal region

T2 - A distinct molecular entity

AU - Heim, Stephanie

AU - Sill, Martin

AU - Jones, David T.W.

AU - Vasiljevic, Alexandre

AU - Jouvet, Anne

AU - Fèvre-Montange, Michelle

AU - Wesseling, Pieter

AU - Beschorner, Rudi

AU - Mittelbronn, Michel

AU - Kohlhof, Patricia

AU - Hovestadt, Volker

AU - Johann, Pascal

AU - Kool, Marcel

AU - Pajtler, Kristian W.

AU - Korshunov, Andrey

AU - Ruland, Vincent

AU - Sperveslage, Jan

AU - Thomas, Christian

AU - Witt, Hendrik

AU - Von Deimling, Andreas

AU - Paulus, Werner

AU - Pfister, Stefan M.

AU - Capper, David

AU - Hasselblatt, Martin

PY - 2016/3/1

Y1 - 2016/3/1

N2 - 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.

AB - 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.

KW - DNA methylation

KW - SPDEF

KW - copy number alterations

KW - ependymoma

KW - mRNA expression

KW - papillary tumor of the pineal region

KW - prognosis

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U2 - 10.1111/bpa.12282

DO - 10.1111/bpa.12282

M3 - Article

C2 - 26813499

AN - SCOPUS:84961798991

SN - 1015-6305

VL - 26

SP - 199

EP - 205

JO - Brain Pathology

JF - Brain Pathology

IS - 2

ER -

Papillary tumor of the pineal region: A distinct molecular entity

Abstract

Keywords

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