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@ARTICLE{Fisher:167470,
author = {M. J. Fisher and D. T. W. Jones$^*$ and Y. Li and X. Guo
and P. S. Sonawane and A. J. Waanders and J. J. Phillips and
W. A. Weiss and A. C. Resnick and S. Gosline and J. Banerjee
and J. Guinney and A. Gnekow and D. Kandels and N. K.
Foreman and A. Korshunov and M. Ryzhova and L. Massimi and
S. Gururangan and M. W. Kieran and Z. Wang and M. Fouladi
and M. Sato and I. Øra and S. Holm and S. J. Markham and P.
Beck$^*$ and N. Jäger$^*$ and A. Wittmann$^*$ and A. C.
Sommerkamp$^*$ and F. Sahm and S. Pfister$^*$ and D. H.
Gutmann},
title = {{I}ntegrated molecular and clinical analysis of low-grade
gliomas in children with neurofibromatosis type 1 ({NF}1).},
journal = {Acta neuropathologica},
volume = {141},
number = {4},
issn = {0001-6322},
address = {Heidelberg},
publisher = {Springer},
reportid = {DKFZ-2021-00373},
pages = {605-617},
year = {2021},
note = {2021 Apr;141(4):605-617 / #EA:B360#LA:B062#},
abstract = {Low-grade gliomas (LGGs) are the most common childhood
brain tumor in the general population and in individuals
with the Neurofibromatosis type 1 (NF1) cancer
predisposition syndrome. Surgical biopsy is rarely performed
prior to treatment in the setting of NF1, resulting in a
paucity of tumor genomic information. To define the
molecular landscape of NF1-associated LGGs (NF1-LGG), we
integrated clinical data, histological diagnoses, and
multi-level genetic/genomic analyses on 70 individuals from
25 centers worldwide. Whereas, most tumors harbored
bi-allelic NF1 inactivation as the only genetic abnormality,
$11\%$ had additional mutations. Moreover, tumors classified
as non-pilocytic astrocytoma based on DNA methylation
analysis were significantly more likely to harbor these
additional mutations. The most common secondary alteration
was FGFR1 mutation, which conferred an additional growth
advantage in multiple complementary experimental murine Nf1
models. Taken together, this comprehensive characterization
has important implications for the management of children
with NF1-LGG, distinct from their sporadic counterparts.},
keywords = {FGFR1 (Other) / Methylation (Other) / Neurofibromatosis
(Other) / Pediatric brain tumor (Other) / Pilocytic
astrocytoma (Other)},
cin = {B360 / B062},
ddc = {610},
cid = {I:(DE-He78)B360-20160331 / I:(DE-He78)B062-20160331},
pnm = {312 - Funktionelle und strukturelle Genomforschung
(POF4-312)},
pid = {G:(DE-HGF)POF4-312},
typ = {PUB:(DE-HGF)16},
pubmed = {pmid:33585982},
doi = {10.1007/s00401-021-02276-5.},
url = {https://inrepo02.dkfz.de/record/167470},
}