An H3F3A K27M-mutation in a sonic hedgehog medulloblastoma

Matthias Dottermusch; Nesrin Uksul; Ulrich J Knappe; Bernhard Erdlenbruch; Annika K Wefers

doi:10.1111/bpa.13024

An H3F3A K27M-mutation in a sonic hedgehog medulloblastoma

Brain Pathol. 2022 May;32(3):e13024. doi: 10.1111/bpa.13024. Epub 2021 Nov 7.

Authors

Matthias Dottermusch^{1

2}, Nesrin Uksul³, Ulrich J Knappe³, Bernhard Erdlenbruch⁴, Annika K Wefers^{1

5}

Affiliations

¹ Institute of Neuropathology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
² Center for Molecular Neurobiology (ZMNH), University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
³ Department of Neurosurgery, Johannes Wesling Klinikum, University Hospital of Ruhruniversität Bochum, Minden, Germany.
⁴ Johannes Wesling Klinikum Minden, University Department for Children and Adolescents, Ruhr University Hospital, Bochum, Germany.
⁵ Mildred Scheel Cancer Career Center HaTriCS4, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

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: H3F3A; H3K27me3; H3 K27M; NGS; SHH; medulloblastoma.

Publication types

Letter
Research Support, Non-U.S. Gov't

MeSH terms

Brain Neoplasms* / pathology
Cerebellar Neoplasms* / genetics
Glioma* / genetics
Hedgehog Proteins / genetics
Histones / genetics
Humans
Medulloblastoma* / genetics
Mutation

Substances

Hedgehog Proteins
Histones