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SMARCB1-deficient and SMARCA4-deficient Malignant Brain Tumors With Complex Copy Number Alterations and TP53 Mutations May Represent the First Clinical Manifestation of Li-Fraumeni Syndrome

Standard

SMARCB1-deficient and SMARCA4-deficient Malignant Brain Tumors With Complex Copy Number Alterations and TP53 Mutations May Represent the First Clinical Manifestation of Li-Fraumeni Syndrome. / Hasselblatt, Martin; Thomas, Christian; Federico, Aniello; Nemes, Karolina; Johann, Pascal D; Bison, Brigitte; Bens, Susanne; Dahlum, Sonja; Kordes, Uwe; Redlich, Antje; Lessel, Lienhard; Pajtler, Kristian W; Mawrin, Christian; Schüller, Ulrich; Nolte, Kay; Kramm, Christof M; Hinz, Felix; Sahm, Felix; Giannini, Caterina; Penkert, Judith; Kratz, Christian P; Pfister, Stefan M; Siebert, Reiner; Paulus, Werner; Kool, Marcel; Frühwald, Michael C.

in: AM J SURG PATHOL, Jahrgang 46, Nr. 9, 01.09.2022, S. 1277-1283.

Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung

Harvard

Hasselblatt, M, Thomas, C, Federico, A, Nemes, K, Johann, PD, Bison, B, Bens, S, Dahlum, S, Kordes, U, Redlich, A, Lessel, L, Pajtler, KW, Mawrin, C, Schüller, U, Nolte, K, Kramm, CM, Hinz, F, Sahm, F, Giannini, C, Penkert, J, Kratz, CP, Pfister, SM, Siebert, R, Paulus, W, Kool, M & Frühwald, MC 2022, 'SMARCB1-deficient and SMARCA4-deficient Malignant Brain Tumors With Complex Copy Number Alterations and TP53 Mutations May Represent the First Clinical Manifestation of Li-Fraumeni Syndrome', AM J SURG PATHOL, Jg. 46, Nr. 9, S. 1277-1283. https://doi.org/10.1097/PAS.0000000000001905

APA

Hasselblatt, M., Thomas, C., Federico, A., Nemes, K., Johann, P. D., Bison, B., Bens, S., Dahlum, S., Kordes, U., Redlich, A., Lessel, L., Pajtler, K. W., Mawrin, C., Schüller, U., Nolte, K., Kramm, C. M., Hinz, F., Sahm, F., Giannini, C., ... Frühwald, M. C. (2022). SMARCB1-deficient and SMARCA4-deficient Malignant Brain Tumors With Complex Copy Number Alterations and TP53 Mutations May Represent the First Clinical Manifestation of Li-Fraumeni Syndrome. AM J SURG PATHOL, 46(9), 1277-1283. https://doi.org/10.1097/PAS.0000000000001905

Vancouver

Hasselblatt M, Thomas C, Federico A, Nemes K, Johann PD, Bison B et al. SMARCB1-deficient and SMARCA4-deficient Malignant Brain Tumors With Complex Copy Number Alterations and TP53 Mutations May Represent the First Clinical Manifestation of Li-Fraumeni Syndrome. AM J SURG PATHOL. 2022 Sep 1;46(9):1277-1283. https://doi.org/10.1097/PAS.0000000000001905

Bibtex

@article{9ee3ccfdc0f142a190afa3467b0c46a2,
title = "SMARCB1-deficient and SMARCA4-deficient Malignant Brain Tumors With Complex Copy Number Alterations and TP53 Mutations May Represent the First Clinical Manifestation of Li-Fraumeni Syndrome",
abstract = "Atypical teratoid/rhabdoid tumor (AT/RT) is a malignant central nervous system tumor predominantly affecting infants. Mutations of SMARCB1 or (rarely) SMARCA4 causing loss of nuclear SMARCB1 or SMARCA4 protein expression are characteristic features, but further recurrent genetic alterations are lacking. Most AT/RTs occur de novo, but secondary AT/RTs arising from other central nervous system tumors have been reported. Malignant gliomas, IDH wild-type, arising in patients with Li-Fraumeni syndrome typically show somatic mutations of TP53 as well as complex copy number alterations, but little is known about the loss of SMARCB1 or SMARCA4 protein expression in this context. Here, we report 2 children in whom malignant supratentorial brain tumors with SMARCB1 deficiency, complex copy number alterations, and somatic TP53 mutations lead to the discovery of pathogenic/likely pathogenic TP53 variants in the germline. Screening of the molecularneuropathology.org dataset for cases with similar genetic and epigenetic alterations yielded another case with SMARCA4 deficiency in a young adult with Li-Fraumeni syndrome. In conclusion, SMARCB1-deficient or SMARCA4-deficient malignant brain tumors with complex copy number alterations and somatic TP53 mutations in children and young adults may represent the first clinical manifestation of Li-Fraumeni syndrome and should prompt genetic counseling and investigation for TP53 germline status.",
keywords = "Brain Neoplasms/complications, Child, DNA Copy Number Variations, DNA Helicases/genetics, Humans, Li-Fraumeni Syndrome/complications, Mutation, Nuclear Proteins/genetics, Rhabdoid Tumor/genetics, SMARCB1 Protein/genetics, Transcription Factors/genetics, Tumor Suppressor Protein p53/genetics",
author = "Martin Hasselblatt and Christian Thomas and Aniello Federico and Karolina Nemes and Johann, {Pascal D} and Brigitte Bison and Susanne Bens and Sonja Dahlum and Uwe Kordes and Antje Redlich and Lienhard Lessel and Pajtler, {Kristian W} and Christian Mawrin and Ulrich Sch{\"u}ller and Kay Nolte and Kramm, {Christof M} and Felix Hinz and Felix Sahm and Caterina Giannini and Judith Penkert and Kratz, {Christian P} and Pfister, {Stefan M} and Reiner Siebert and Werner Paulus and Marcel Kool and Fr{\"u}hwald, {Michael C}",
note = "Copyright {\textcopyright} 2022 Wolters Kluwer Health, Inc. All rights reserved.",
year = "2022",
month = sep,
day = "1",
doi = "10.1097/PAS.0000000000001905",
language = "English",
volume = "46",
pages = "1277--1283",
journal = "AM J SURG PATHOL",
issn = "0147-5185",
publisher = "Lippincott Williams and Wilkins",
number = "9",

}

RIS

TY - JOUR

T1 - SMARCB1-deficient and SMARCA4-deficient Malignant Brain Tumors With Complex Copy Number Alterations and TP53 Mutations May Represent the First Clinical Manifestation of Li-Fraumeni Syndrome

AU - Hasselblatt, Martin

AU - Thomas, Christian

AU - Federico, Aniello

AU - Nemes, Karolina

AU - Johann, Pascal D

AU - Bison, Brigitte

AU - Bens, Susanne

AU - Dahlum, Sonja

AU - Kordes, Uwe

AU - Redlich, Antje

AU - Lessel, Lienhard

AU - Pajtler, Kristian W

AU - Mawrin, Christian

AU - Schüller, Ulrich

AU - Nolte, Kay

AU - Kramm, Christof M

AU - Hinz, Felix

AU - Sahm, Felix

AU - Giannini, Caterina

AU - Penkert, Judith

AU - Kratz, Christian P

AU - Pfister, Stefan M

AU - Siebert, Reiner

AU - Paulus, Werner

AU - Kool, Marcel

AU - Frühwald, Michael C

N1 - Copyright © 2022 Wolters Kluwer Health, Inc. All rights reserved.

PY - 2022/9/1

Y1 - 2022/9/1

N2 - Atypical teratoid/rhabdoid tumor (AT/RT) is a malignant central nervous system tumor predominantly affecting infants. Mutations of SMARCB1 or (rarely) SMARCA4 causing loss of nuclear SMARCB1 or SMARCA4 protein expression are characteristic features, but further recurrent genetic alterations are lacking. Most AT/RTs occur de novo, but secondary AT/RTs arising from other central nervous system tumors have been reported. Malignant gliomas, IDH wild-type, arising in patients with Li-Fraumeni syndrome typically show somatic mutations of TP53 as well as complex copy number alterations, but little is known about the loss of SMARCB1 or SMARCA4 protein expression in this context. Here, we report 2 children in whom malignant supratentorial brain tumors with SMARCB1 deficiency, complex copy number alterations, and somatic TP53 mutations lead to the discovery of pathogenic/likely pathogenic TP53 variants in the germline. Screening of the molecularneuropathology.org dataset for cases with similar genetic and epigenetic alterations yielded another case with SMARCA4 deficiency in a young adult with Li-Fraumeni syndrome. In conclusion, SMARCB1-deficient or SMARCA4-deficient malignant brain tumors with complex copy number alterations and somatic TP53 mutations in children and young adults may represent the first clinical manifestation of Li-Fraumeni syndrome and should prompt genetic counseling and investigation for TP53 germline status.

AB - Atypical teratoid/rhabdoid tumor (AT/RT) is a malignant central nervous system tumor predominantly affecting infants. Mutations of SMARCB1 or (rarely) SMARCA4 causing loss of nuclear SMARCB1 or SMARCA4 protein expression are characteristic features, but further recurrent genetic alterations are lacking. Most AT/RTs occur de novo, but secondary AT/RTs arising from other central nervous system tumors have been reported. Malignant gliomas, IDH wild-type, arising in patients with Li-Fraumeni syndrome typically show somatic mutations of TP53 as well as complex copy number alterations, but little is known about the loss of SMARCB1 or SMARCA4 protein expression in this context. Here, we report 2 children in whom malignant supratentorial brain tumors with SMARCB1 deficiency, complex copy number alterations, and somatic TP53 mutations lead to the discovery of pathogenic/likely pathogenic TP53 variants in the germline. Screening of the molecularneuropathology.org dataset for cases with similar genetic and epigenetic alterations yielded another case with SMARCA4 deficiency in a young adult with Li-Fraumeni syndrome. In conclusion, SMARCB1-deficient or SMARCA4-deficient malignant brain tumors with complex copy number alterations and somatic TP53 mutations in children and young adults may represent the first clinical manifestation of Li-Fraumeni syndrome and should prompt genetic counseling and investigation for TP53 germline status.

KW - Brain Neoplasms/complications

KW - Child

KW - DNA Copy Number Variations

KW - DNA Helicases/genetics

KW - Humans

KW - Li-Fraumeni Syndrome/complications

KW - Mutation

KW - Nuclear Proteins/genetics

KW - Rhabdoid Tumor/genetics

KW - SMARCB1 Protein/genetics

KW - Transcription Factors/genetics

KW - Tumor Suppressor Protein p53/genetics

U2 - 10.1097/PAS.0000000000001905

DO - 10.1097/PAS.0000000000001905

M3 - SCORING: Journal article

C2 - 35446794

VL - 46

SP - 1277

EP - 1283

JO - AM J SURG PATHOL

JF - AM J SURG PATHOL

SN - 0147-5185

IS - 9

ER -