An H3F3A K27M‐mutation in a sonic hedgehog medulloblastoma. (7th November 2021)

• Record Type: Journal Article
• Authors: Dottermusch, Matthias; Uksul, Nesrin; Knappe, Ulrich J.; Erdlenbruch, Bernhard; Wefers, Annika K.
• Is Part Of: Brain pathology. Volume 32:Number 3(2022)
• Page Start: n/a
• Page End: n/a
• Publication Date: 2021-11-07
• Subjects: H3 K27M -- H3F3A -- H3K27me3 -- medulloblastoma -- NGS -- SHH; Nervous system -- Diseases -- Periodicals; Brain -- Diseases -- Periodicals; Neurology -- Periodicals; Brain Diseases -- Periodicals; Cerveau -- Maladies -- Périodiques; Système nerveux -- Maladies -- Périodiques; Neurologie -- Périodiques; 616.805
• DOI: 10.1111/bpa.13024
• Languages: English
• ISSNs: 1015-6305

Abstract

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.