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, Vol. 32, No. 3, e13024, 05.2022, p. e13024.Research output: SCORING: Contribution to journal › Other (editorial matter etc.) › Research
Harvard
APA
Vancouver
Bibtex
}
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 -