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The genetic landscape of choroid plexus tumors in children and adults

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The genetic landscape of choroid plexus tumors in children and adults. / Thomas, Christian; Soschinski, Patrick; Zwaig, Melissa; Oikonomopoulos, Spyridon; Okonechnikov, Konstantin; Pajtler, Kristian W; Sill, Martin; Schweizer, Leonille; Koch, Arend; Neumann, Julia; Schüller, Ulrich; Sahm, Felix; Rauschenbach, Laurèl; Keyvani, Kathy; Proescholdt, Martin; Riemenschneider, Markus J; Segewiß, Jochen; Ruckert, Christian; Grauer, Oliver; Monoranu, Camelia-Maria; Lamszus, Katrin; Patrizi, Annarita; Kordes, Uwe; Siebert, Reiner; Kool, Marcel; Ragoussis, Jiannis; Foulkes, William D; Paulus, Werner; Rivera, Barbara; Hasselblatt, Martin.

In: NEURO-ONCOLOGY, Vol. 23, No. 4, 12.04.2021, p. 650-660.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Harvard

Thomas, C, Soschinski, P, Zwaig, M, Oikonomopoulos, S, Okonechnikov, K, Pajtler, KW, Sill, M, Schweizer, L, Koch, A, Neumann, J, Schüller, U, Sahm, F, Rauschenbach, L, Keyvani, K, Proescholdt, M, Riemenschneider, MJ, Segewiß, J, Ruckert, C, Grauer, O, Monoranu, C-M, Lamszus, K, Patrizi, A, Kordes, U, Siebert, R, Kool, M, Ragoussis, J, Foulkes, WD, Paulus, W, Rivera, B & Hasselblatt, M 2021, 'The genetic landscape of choroid plexus tumors in children and adults', NEURO-ONCOLOGY, vol. 23, no. 4, pp. 650-660. https://doi.org/10.1093/neuonc/noaa267

APA

Thomas, C., Soschinski, P., Zwaig, M., Oikonomopoulos, S., Okonechnikov, K., Pajtler, K. W., Sill, M., Schweizer, L., Koch, A., Neumann, J., Schüller, U., Sahm, F., Rauschenbach, L., Keyvani, K., Proescholdt, M., Riemenschneider, M. J., Segewiß, J., Ruckert, C., Grauer, O., ... Hasselblatt, M. (2021). The genetic landscape of choroid plexus tumors in children and adults. NEURO-ONCOLOGY, 23(4), 650-660. https://doi.org/10.1093/neuonc/noaa267

Vancouver

Thomas C, Soschinski P, Zwaig M, Oikonomopoulos S, Okonechnikov K, Pajtler KW et al. The genetic landscape of choroid plexus tumors in children and adults. NEURO-ONCOLOGY. 2021 Apr 12;23(4):650-660. https://doi.org/10.1093/neuonc/noaa267

Bibtex

@article{c1d2ec18ef804313a32bd4e8e3a66e07,
title = "The genetic landscape of choroid plexus tumors in children and adults",
abstract = "BACKGROUND: Choroid plexus tumors (CPTs) are intraventricular brain tumors predominantly arising in children but also affecting adults. In most cases, driver mutations have not been identified, although there are reports of frequent chromosome-wide copy-number alterations and TP53 mutations, especially in choroid plexus carcinomas (CPCs).METHODS: DNA methylation profiling and RNA-sequencing was performed in a series of 47 CPTs. Samples comprised 35 choroid plexus papillomas (CPPs), 6 atypical choroid plexus papillomas (aCPPs) and 6 CPCs plus three recurrences thereof. Targeted TP53 and TERT promotor sequencing was performed in all samples. Whole exome sequencing (WES) and linked-read whole genome sequencing (WGS) was performed in 25 and 4 samples, respectively.RESULTS: Tumors comprised the molecular subgroups {"}pediatric A{"} (N=11), {"}pediatric B{"} (N=12) and {"}adult{"} (N=27). Copy-number alterations mainly represented whole-chromosomal alterations with subgroup-specific enrichments (gains of Chr1, 2 and 21q in {"}pediatric B{"} and gains of Chr5 and 9 and loss of Chr21q in {"}adult{"}). RNA sequencing yielded a novel CCDC47-PRKCA fusion transcript in one adult choroid plexus papilloma patient with aggressive clinical course; an underlying Chr17 inversion was demonstrated by linked-read WGS. WES and targeted sequencing showed TP53 mutations in 7/47 CPTs (15%), five of which were children. On the contrary, TERT promoter mutations were encountered in 7/28 adult patients (25%) and associated with shorter progression-free survival (log-rank test, p=0.015).CONCLUSION: Pediatric CPTs lack recurrent driver alterations except for TP53, whereas CPTs in adults show TERT promoter mutations or a novel CCDC47-PRKCA gene fusion, being associated with a more unfavorable clinical course.",
author = "Christian Thomas and Patrick Soschinski and Melissa Zwaig and Spyridon Oikonomopoulos and Konstantin Okonechnikov and Pajtler, {Kristian W} and Martin Sill and Leonille Schweizer and Arend Koch and Julia Neumann and Ulrich Sch{\"u}ller and Felix Sahm and Laur{\`e}l Rauschenbach and Kathy Keyvani and Martin Proescholdt and Riemenschneider, {Markus J} and Jochen Segewi{\ss} and Christian Ruckert and Oliver Grauer and Camelia-Maria Monoranu and Katrin Lamszus and Annarita Patrizi and Uwe Kordes and Reiner Siebert and Marcel Kool and Jiannis Ragoussis and Foulkes, {William D} and Werner Paulus and Barbara Rivera and Martin Hasselblatt",
note = "{\textcopyright} The Author(s) 2020. Published by Oxford University Press on behalf of the Society for Neuro-Oncology. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.",
year = "2021",
month = apr,
day = "12",
doi = "10.1093/neuonc/noaa267",
language = "English",
volume = "23",
pages = "650--660",
journal = "NEURO-ONCOLOGY",
issn = "1522-8517",
publisher = "Oxford University Press",
number = "4",

}

RIS

TY - JOUR

T1 - The genetic landscape of choroid plexus tumors in children and adults

AU - Thomas, Christian

AU - Soschinski, Patrick

AU - Zwaig, Melissa

AU - Oikonomopoulos, Spyridon

AU - Okonechnikov, Konstantin

AU - Pajtler, Kristian W

AU - Sill, Martin

AU - Schweizer, Leonille

AU - Koch, Arend

AU - Neumann, Julia

AU - Schüller, Ulrich

AU - Sahm, Felix

AU - Rauschenbach, Laurèl

AU - Keyvani, Kathy

AU - Proescholdt, Martin

AU - Riemenschneider, Markus J

AU - Segewiß, Jochen

AU - Ruckert, Christian

AU - Grauer, Oliver

AU - Monoranu, Camelia-Maria

AU - Lamszus, Katrin

AU - Patrizi, Annarita

AU - Kordes, Uwe

AU - Siebert, Reiner

AU - Kool, Marcel

AU - Ragoussis, Jiannis

AU - Foulkes, William D

AU - Paulus, Werner

AU - Rivera, Barbara

AU - Hasselblatt, Martin

N1 - © The Author(s) 2020. Published by Oxford University Press on behalf of the Society for Neuro-Oncology. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

PY - 2021/4/12

Y1 - 2021/4/12

N2 - BACKGROUND: Choroid plexus tumors (CPTs) are intraventricular brain tumors predominantly arising in children but also affecting adults. In most cases, driver mutations have not been identified, although there are reports of frequent chromosome-wide copy-number alterations and TP53 mutations, especially in choroid plexus carcinomas (CPCs).METHODS: DNA methylation profiling and RNA-sequencing was performed in a series of 47 CPTs. Samples comprised 35 choroid plexus papillomas (CPPs), 6 atypical choroid plexus papillomas (aCPPs) and 6 CPCs plus three recurrences thereof. Targeted TP53 and TERT promotor sequencing was performed in all samples. Whole exome sequencing (WES) and linked-read whole genome sequencing (WGS) was performed in 25 and 4 samples, respectively.RESULTS: Tumors comprised the molecular subgroups "pediatric A" (N=11), "pediatric B" (N=12) and "adult" (N=27). Copy-number alterations mainly represented whole-chromosomal alterations with subgroup-specific enrichments (gains of Chr1, 2 and 21q in "pediatric B" and gains of Chr5 and 9 and loss of Chr21q in "adult"). RNA sequencing yielded a novel CCDC47-PRKCA fusion transcript in one adult choroid plexus papilloma patient with aggressive clinical course; an underlying Chr17 inversion was demonstrated by linked-read WGS. WES and targeted sequencing showed TP53 mutations in 7/47 CPTs (15%), five of which were children. On the contrary, TERT promoter mutations were encountered in 7/28 adult patients (25%) and associated with shorter progression-free survival (log-rank test, p=0.015).CONCLUSION: Pediatric CPTs lack recurrent driver alterations except for TP53, whereas CPTs in adults show TERT promoter mutations or a novel CCDC47-PRKCA gene fusion, being associated with a more unfavorable clinical course.

AB - BACKGROUND: Choroid plexus tumors (CPTs) are intraventricular brain tumors predominantly arising in children but also affecting adults. In most cases, driver mutations have not been identified, although there are reports of frequent chromosome-wide copy-number alterations and TP53 mutations, especially in choroid plexus carcinomas (CPCs).METHODS: DNA methylation profiling and RNA-sequencing was performed in a series of 47 CPTs. Samples comprised 35 choroid plexus papillomas (CPPs), 6 atypical choroid plexus papillomas (aCPPs) and 6 CPCs plus three recurrences thereof. Targeted TP53 and TERT promotor sequencing was performed in all samples. Whole exome sequencing (WES) and linked-read whole genome sequencing (WGS) was performed in 25 and 4 samples, respectively.RESULTS: Tumors comprised the molecular subgroups "pediatric A" (N=11), "pediatric B" (N=12) and "adult" (N=27). Copy-number alterations mainly represented whole-chromosomal alterations with subgroup-specific enrichments (gains of Chr1, 2 and 21q in "pediatric B" and gains of Chr5 and 9 and loss of Chr21q in "adult"). RNA sequencing yielded a novel CCDC47-PRKCA fusion transcript in one adult choroid plexus papilloma patient with aggressive clinical course; an underlying Chr17 inversion was demonstrated by linked-read WGS. WES and targeted sequencing showed TP53 mutations in 7/47 CPTs (15%), five of which were children. On the contrary, TERT promoter mutations were encountered in 7/28 adult patients (25%) and associated with shorter progression-free survival (log-rank test, p=0.015).CONCLUSION: Pediatric CPTs lack recurrent driver alterations except for TP53, whereas CPTs in adults show TERT promoter mutations or a novel CCDC47-PRKCA gene fusion, being associated with a more unfavorable clinical course.

U2 - 10.1093/neuonc/noaa267

DO - 10.1093/neuonc/noaa267

M3 - SCORING: Journal article

C2 - 33249490

VL - 23

SP - 650

EP - 660

JO - NEURO-ONCOLOGY

JF - NEURO-ONCOLOGY

SN - 1522-8517

IS - 4

ER -