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Cribriform neuroepithelial tumor: Molecular characterization of a SMARCB1-deficient non-rhabdoid tumor with favorable long-term outcome

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Cribriform neuroepithelial tumor: Molecular characterization of a SMARCB1-deficient non-rhabdoid tumor with favorable long-term outcome. / Johann, Pascal D; Hovestadt, Volker; Thomas, Christian; Jeibmann, Astrid; Heß, Katharina; Bens, Susanne; Oyen, Florian; Hawkins, Cynthia; Pierson, Christopher R; Aldape, Kenneth; Kim, Sang-Pyo; Widing, Eva; Sumerauer, David; Hauser, Péter; van Landeghem, Frank; Ryzhova, Marina; Korshunov, Andrey; Capper, David; Jones, David T W; Pfister, Stefan M; Schneppenheim, Reinhard; Siebert, Reiner; Paulus, Werner; Frühwald, Michael C; Kool, Marcel; Hasselblatt, Martin.

In: BRAIN PATHOL, Vol. 27, No. 4, 07.2017, p. 411-418.

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

Harvard

Johann, PD, Hovestadt, V, Thomas, C, Jeibmann, A, Heß, K, Bens, S, Oyen, F, Hawkins, C, Pierson, CR, Aldape, K, Kim, S-P, Widing, E, Sumerauer, D, Hauser, P, van Landeghem, F, Ryzhova, M, Korshunov, A, Capper, D, Jones, DTW, Pfister, SM, Schneppenheim, R, Siebert, R, Paulus, W, Frühwald, MC, Kool, M & Hasselblatt, M 2017, 'Cribriform neuroepithelial tumor: Molecular characterization of a SMARCB1-deficient non-rhabdoid tumor with favorable long-term outcome', BRAIN PATHOL, vol. 27, no. 4, pp. 411-418. https://doi.org/10.1111/bpa.12413

APA

Johann, P. D., Hovestadt, V., Thomas, C., Jeibmann, A., Heß, K., Bens, S., Oyen, F., Hawkins, C., Pierson, C. R., Aldape, K., Kim, S-P., Widing, E., Sumerauer, D., Hauser, P., van Landeghem, F., Ryzhova, M., Korshunov, A., Capper, D., Jones, D. T. W., ... Hasselblatt, M. (2017). Cribriform neuroepithelial tumor: Molecular characterization of a SMARCB1-deficient non-rhabdoid tumor with favorable long-term outcome. BRAIN PATHOL, 27(4), 411-418. https://doi.org/10.1111/bpa.12413

Vancouver

Johann PD, Hovestadt V, Thomas C, Jeibmann A, Heß K, Bens S et al. Cribriform neuroepithelial tumor: Molecular characterization of a SMARCB1-deficient non-rhabdoid tumor with favorable long-term outcome. BRAIN PATHOL. 2017 Jul;27(4):411-418. https://doi.org/10.1111/bpa.12413

Bibtex

@article{2927aefc792f4b90bd3c540bc1f1c1af,
title = "Cribriform neuroepithelial tumor: Molecular characterization of a SMARCB1-deficient non-rhabdoid tumor with favorable long-term outcome",
abstract = "Rhabdoid phenotype and loss of SMARCB1 expression in a brain tumor are characteristic features of atypical teratoid/rhabdoid tumors (ATRT). Rare non-rhabdoid brain tumors showing cribriform growth pattern and SMARCB1 loss have been designated cribriform neuroepithelial tumor (CRINET). Small case series suggest that CRINETs may have a relatively favorable prognosis. However, the long-term outcome is unclear and it remains uncertain whether CRINET represents a distinct entity or a variant of ATRT. Therefore, 10 CRINETs were clinically and molecularly characterized and compared with 10 ATRTs of each of three recently described molecular subgroups (i.e. ATRT-TYR, ATRT-SHH and ATRT-MYC) using Illumina Infinium HumanMethylation450 arrays, FISH, MLPA, and sequencing. Furthermore, outcome was compared to a larger cohort of 27 children with ATRT-TYR. Median age of the 6 boys and 4 girls harboring a CRINET was 20 months. On histopathological examination, all CRINETs demonstrated a cribriform growth pattern and distinct tyrosinase staining. On unsupervised cluster analysis of methylation data, all CRINETs examined exclusively clustered within the ATRT-TYR molecular subgroup. As ATRT-TYR, CRINETs mainly showed large heterozygous 22q deletions (9/10) and SMARCB1 mutations of the other allele. In two patients, SMARCB1 mutations were also present in the germline. Estimated mean overall survival in patients with CRINETs was 125 months (95% confidence interval 100-151 months) as compared to only 53 (33-74) months in patients with ATRTs of the ATRT-TYR subgroup (Log-Rank P < 0.05). In conclusion, CRINET represents a SMARCB1-deficient non-rhabdoid tumor, which shares molecular similarities with the ATRT-TYR subgroup but has distinct histopathological features and favorable long-term outcome.",
author = "Johann, {Pascal D} and Volker Hovestadt and Christian Thomas and Astrid Jeibmann and Katharina He{\ss} and Susanne Bens and Florian Oyen and Cynthia Hawkins and Pierson, {Christopher R} and Kenneth Aldape and Sang-Pyo Kim and Eva Widing and David Sumerauer and P{\'e}ter Hauser and {van Landeghem}, Frank and Marina Ryzhova and Andrey Korshunov and David Capper and Jones, {David T W} and Pfister, {Stefan M} and Reinhard Schneppenheim and Reiner Siebert and Werner Paulus and Fr{\"u}hwald, {Michael C} and Marcel Kool and Martin Hasselblatt",
note = "{\textcopyright} 2016 International Society of Neuropathology.",
year = "2017",
month = jul,
doi = "10.1111/bpa.12413",
language = "English",
volume = "27",
pages = "411--418",
journal = "BRAIN PATHOL",
issn = "1015-6305",
publisher = "Wiley-Blackwell",
number = "4",

}

RIS

TY - JOUR

T1 - Cribriform neuroepithelial tumor: Molecular characterization of a SMARCB1-deficient non-rhabdoid tumor with favorable long-term outcome

AU - Johann, Pascal D

AU - Hovestadt, Volker

AU - Thomas, Christian

AU - Jeibmann, Astrid

AU - Heß, Katharina

AU - Bens, Susanne

AU - Oyen, Florian

AU - Hawkins, Cynthia

AU - Pierson, Christopher R

AU - Aldape, Kenneth

AU - Kim, Sang-Pyo

AU - Widing, Eva

AU - Sumerauer, David

AU - Hauser, Péter

AU - van Landeghem, Frank

AU - Ryzhova, Marina

AU - Korshunov, Andrey

AU - Capper, David

AU - Jones, David T W

AU - Pfister, Stefan M

AU - Schneppenheim, Reinhard

AU - Siebert, Reiner

AU - Paulus, Werner

AU - Frühwald, Michael C

AU - Kool, Marcel

AU - Hasselblatt, Martin

N1 - © 2016 International Society of Neuropathology.

PY - 2017/7

Y1 - 2017/7

N2 - Rhabdoid phenotype and loss of SMARCB1 expression in a brain tumor are characteristic features of atypical teratoid/rhabdoid tumors (ATRT). Rare non-rhabdoid brain tumors showing cribriform growth pattern and SMARCB1 loss have been designated cribriform neuroepithelial tumor (CRINET). Small case series suggest that CRINETs may have a relatively favorable prognosis. However, the long-term outcome is unclear and it remains uncertain whether CRINET represents a distinct entity or a variant of ATRT. Therefore, 10 CRINETs were clinically and molecularly characterized and compared with 10 ATRTs of each of three recently described molecular subgroups (i.e. ATRT-TYR, ATRT-SHH and ATRT-MYC) using Illumina Infinium HumanMethylation450 arrays, FISH, MLPA, and sequencing. Furthermore, outcome was compared to a larger cohort of 27 children with ATRT-TYR. Median age of the 6 boys and 4 girls harboring a CRINET was 20 months. On histopathological examination, all CRINETs demonstrated a cribriform growth pattern and distinct tyrosinase staining. On unsupervised cluster analysis of methylation data, all CRINETs examined exclusively clustered within the ATRT-TYR molecular subgroup. As ATRT-TYR, CRINETs mainly showed large heterozygous 22q deletions (9/10) and SMARCB1 mutations of the other allele. In two patients, SMARCB1 mutations were also present in the germline. Estimated mean overall survival in patients with CRINETs was 125 months (95% confidence interval 100-151 months) as compared to only 53 (33-74) months in patients with ATRTs of the ATRT-TYR subgroup (Log-Rank P < 0.05). In conclusion, CRINET represents a SMARCB1-deficient non-rhabdoid tumor, which shares molecular similarities with the ATRT-TYR subgroup but has distinct histopathological features and favorable long-term outcome.

AB - Rhabdoid phenotype and loss of SMARCB1 expression in a brain tumor are characteristic features of atypical teratoid/rhabdoid tumors (ATRT). Rare non-rhabdoid brain tumors showing cribriform growth pattern and SMARCB1 loss have been designated cribriform neuroepithelial tumor (CRINET). Small case series suggest that CRINETs may have a relatively favorable prognosis. However, the long-term outcome is unclear and it remains uncertain whether CRINET represents a distinct entity or a variant of ATRT. Therefore, 10 CRINETs were clinically and molecularly characterized and compared with 10 ATRTs of each of three recently described molecular subgroups (i.e. ATRT-TYR, ATRT-SHH and ATRT-MYC) using Illumina Infinium HumanMethylation450 arrays, FISH, MLPA, and sequencing. Furthermore, outcome was compared to a larger cohort of 27 children with ATRT-TYR. Median age of the 6 boys and 4 girls harboring a CRINET was 20 months. On histopathological examination, all CRINETs demonstrated a cribriform growth pattern and distinct tyrosinase staining. On unsupervised cluster analysis of methylation data, all CRINETs examined exclusively clustered within the ATRT-TYR molecular subgroup. As ATRT-TYR, CRINETs mainly showed large heterozygous 22q deletions (9/10) and SMARCB1 mutations of the other allele. In two patients, SMARCB1 mutations were also present in the germline. Estimated mean overall survival in patients with CRINETs was 125 months (95% confidence interval 100-151 months) as compared to only 53 (33-74) months in patients with ATRTs of the ATRT-TYR subgroup (Log-Rank P < 0.05). In conclusion, CRINET represents a SMARCB1-deficient non-rhabdoid tumor, which shares molecular similarities with the ATRT-TYR subgroup but has distinct histopathological features and favorable long-term outcome.

U2 - 10.1111/bpa.12413

DO - 10.1111/bpa.12413

M3 - SCORING: Journal article

C2 - 27380723

VL - 27

SP - 411

EP - 418

JO - BRAIN PATHOL

JF - BRAIN PATHOL

SN - 1015-6305

IS - 4

ER -