An H3F3A K27M-mutation in a sonic hedgehog medulloblastoma

Standard

An H3F3A K27M-mutation in a sonic hedgehog medulloblastoma. / Dottermusch, Matthias; Uksul, Nesrin; Knappe, Ulrich J; Erdlenbruch, Bernhard; Wefers, Annika K.

in: BRAIN PATHOL, Jahrgang 32, Nr. 3, e13024, 05.2022, S. e13024.

Publikationen: SCORING: Beitrag in Fachzeitschrift/ZeitungAndere (Vorworte u.ä.)Forschung

Harvard

Dottermusch, M, Uksul, N, Knappe, UJ, Erdlenbruch, B & Wefers, AK 2022, 'An H3F3A K27M-mutation in a sonic hedgehog medulloblastoma', BRAIN PATHOL, Jg. 32, Nr. 3, e13024, S. e13024. https://doi.org/10.1111/bpa.13024

APA

Dottermusch, M., Uksul, N., Knappe, U. J., Erdlenbruch, B., & Wefers, A. K. (2022). An H3F3A K27M-mutation in a sonic hedgehog medulloblastoma. BRAIN PATHOL, 32(3), e13024. [e13024]. https://doi.org/10.1111/bpa.13024

Vancouver

Dottermusch M, Uksul N, Knappe UJ, Erdlenbruch B, Wefers AK. An H3F3A K27M-mutation in a sonic hedgehog medulloblastoma. BRAIN PATHOL. 2022 Mai;32(3):e13024. e13024. https://doi.org/10.1111/bpa.13024

Bibtex

@article{1d085755188b495b8acfb2c8dfd08e2e,
title = "An H3F3A K27M-mutation in a sonic hedgehog medulloblastoma",
abstract = "Medulloblastomas are malignant embryonal brain tumours that may harbour mutations in histone-modifying genes, while mutations in histone genes have not been detected to date. We here describe the first SHH medulloblastoma with H3 K27M mutation. This may have diagnostic implications as H3 K27M mutations are the hallmark of diffuse midline gliomas, H3 K27M mutant, WHO grade IV. Medulloblastomas arise in midline structures and thus must not be mistaken for DMG when using an antibody detecting the H3 K27M mutation.",
keywords = "Brain Neoplasms/pathology, Cerebellar Neoplasms/genetics, Glioma/genetics, Hedgehog Proteins/genetics, Histones/genetics, Humans, Medulloblastoma/genetics, Mutation",
author = "Matthias Dottermusch and Nesrin Uksul and Knappe, {Ulrich J} and Bernhard Erdlenbruch and Wefers, {Annika K.}",
year = "2022",
month = may,
doi = "10.1111/bpa.13024",
language = "English",
volume = "32",
pages = "e13024",
journal = "BRAIN PATHOL",
issn = "1015-6305",
publisher = "Wiley-Blackwell",
number = "3",

}

RIS

TY - JOUR

T1 - An H3F3A K27M-mutation in a sonic hedgehog medulloblastoma

AU - Dottermusch, Matthias

AU - Uksul, Nesrin

AU - Knappe, Ulrich J

AU - Erdlenbruch, Bernhard

AU - Wefers, Annika K.

PY - 2022/5

Y1 - 2022/5

N2 - Medulloblastomas are malignant embryonal brain tumours that may harbour mutations in histone-modifying genes, while mutations in histone genes have not been detected to date. We here describe the first SHH medulloblastoma with H3 K27M mutation. This may have diagnostic implications as H3 K27M mutations are the hallmark of diffuse midline gliomas, H3 K27M mutant, WHO grade IV. Medulloblastomas arise in midline structures and thus must not be mistaken for DMG when using an antibody detecting the H3 K27M mutation.

AB - Medulloblastomas are malignant embryonal brain tumours that may harbour mutations in histone-modifying genes, while mutations in histone genes have not been detected to date. We here describe the first SHH medulloblastoma with H3 K27M mutation. This may have diagnostic implications as H3 K27M mutations are the hallmark of diffuse midline gliomas, H3 K27M mutant, WHO grade IV. Medulloblastomas arise in midline structures and thus must not be mistaken for DMG when using an antibody detecting the H3 K27M mutation.

KW - Brain Neoplasms/pathology

KW - Cerebellar Neoplasms/genetics

KW - Glioma/genetics

KW - Hedgehog Proteins/genetics

KW - Histones/genetics

KW - Humans

KW - Medulloblastoma/genetics

KW - Mutation

U2 - 10.1111/bpa.13024

DO - 10.1111/bpa.13024

M3 - Other (editorial matter etc.)

C2 - 34747078

VL - 32

SP - e13024

JO - BRAIN PATHOL

JF - BRAIN PATHOL

SN - 1015-6305

IS - 3

M1 - e13024

ER -