An H3F3A K27M‐mutation in a sonic hedgehog medulloblastoma

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 mutati...

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Detalles Bibliográficos
Autores principales: Dottermusch, Matthias, Uksul, Nesrin, Knappe, Ulrich J., Erdlenbruch, Bernhard, Wefers, Annika K.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Letters to the Editor
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9048514/
https://www.ncbi.nlm.nih.gov/pubmed/34747078
http://dx.doi.org/10.1111/bpa.13024
Descripción
Sumario: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.[Image: see text]

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