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@ARTICLE{Karremann:131783,
author = {M. Karremann and G. H. Gielen and M. Hoffmann and M. Wiese
and N. Colditz and M. Warmuth-Metz and B. Bison and A.
Claviez and D. G. van Vuurden and A. O. von Bueren and M.
Gessi and I. Kühnle and V. H. Hans and M. Benesch and D.
Sturm$^*$ and R.-D. Kortmann and A. Waha and T. Pietsch and
C. M. Kramm},
title = {{D}iffuse high-grade gliomas with {H}3 {K}27{M} mutations
carry a dismal prognosis independent of tumor location.},
journal = {Neuro-Oncology},
volume = {20},
number = {1},
issn = {1523-5866},
address = {Oxford},
publisher = {Oxford Univ. Press},
reportid = {DKFZ-2018-00080},
pages = {123 - 131},
year = {2018},
abstract = {The novel entity of 'diffuse midline glioma, H3
K27M-mutant' has been defined in the 2016 revision of the
World Health Organization (WHO) classification of tumors of
the central nervous system (CNS). Tumors of this entity
arise in CNS midline structures of predominantly pediatric
patients and are associated with an overall dismal
prognosis. They are defined by K27M mutations in H3F3A or
HIST1H3B/C, encoding for histone 3 variants H3.3 and H3.1,
respectively, which are considered hallmark events driving
gliomagenesis.Here, we characterized 85 centrally reviewed
diffuse gliomas on midline locations enrolled in the
nationwide pediatric German HIT-HGG registry regarding tumor
site, histone 3 mutational status, WHO grade, age, sex, and
extent of tumor resection.We found 56 H3.3 K27M-mutant
tumors $(66\%),$ 6 H3.1 K27M-mutant tumors $(7\%),$ and 23
H3-wildtype tumors $(27\%).$ H3 K27M-mutant gliomas shared
an aggressive clinical course independent of their anatomic
location. Multivariate regression analysis confirmed the
significant impact of the H3 K27M mutation as the only
independent parameter predictive of overall survival (P =
0.009). In H3 K27M-mutant tumors, neither anatomic midline
location nor histopathological grading nor extent of tumor
resection had an influence on survival.These results
substantiate the clinical significance of considering
diffuse midline glioma, H3 K27M-mutant, as a distinct entity
corresponding to WHO grade IV, carrying a universally fatal
prognosis.},
cin = {B062},
ddc = {610},
cid = {I:(DE-He78)B062-20160331},
pnm = {312 - Functional and structural genomics (POF3-312)},
pid = {G:(DE-HGF)POF3-312},
typ = {PUB:(DE-HGF)16},
pubmed = {pmid:29016894},
pmc = {pmc:PMC5761525},
doi = {10.1093/neuonc/nox149},
url = {https://inrepo02.dkfz.de/record/131783},
}