Open AccessAn H3F3A K27M‐mutation in a sonic hedgehog medulloblastoma
Author(s) -
Dottermusch Matthias,
Uksul Nesrin,
Knappe Ulrich J.,
Erdlenbruch Bernhard,
Wefers Annika K.
Publication year - 2022
Publication title -
brain pathology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.986
H-Index - 132
eISSN - 1750-3639
pISSN - 1015-6305
DOI - 10.1111/bpa.13024
Subject(s) - medulloblastoma , mutation , histone , biology , cancer research , mutant , histone h3 , sonic hedgehog , gene , hedgehog , genetics
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.