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@ARTICLE{Collins:126279,
author = {V. P. Collins and D. Jones$^*$ and C. Giannini},
title = {{P}ilocytic astrocytoma: pathology, molecular mechanisms
and markers.},
journal = {Acta neuropathologica},
volume = {129},
number = {6},
issn = {1432-0533},
address = {Berlin},
publisher = {Springer},
reportid = {DKFZ-2017-02394},
pages = {775 - 788},
year = {2015},
abstract = {Pilocytic astrocytomas (PAs) were recognized as a discrete
clinical entity over 70 years ago. They are relatively
benign (WHO grade I) and have, as a group, a 10-year
survival of over $90\%.$ Many require merely surgical
removal and only very infrequently do they progress to more
malignant gliomas. While most show classical morphology,
they may present a spectrum of morphological patterns, and
there are difficult cases that show similarities to other
gliomas, some of which are malignant and require aggressive
treatment. Until recently, almost nothing was known about
the molecular mechanisms involved in their development. The
use of high-throughput sequencing techniques interrogating
the whole genome has shown that single abnormalities of the
mitogen-activating protein kinase (MAPK) pathway are
exclusively found in almost all cases, indicating that PA
represents a one-pathway disease. The most common mechanism
is a tandem duplication of a ≈2 Mb-fragment of #7q, giving
rise to a fusion between two genes, resulting in a
transforming fusion protein, consisting of the N-terminus of
KIAA1549 and the kinase domain of BRAF. Additional
infrequent fusion partners have been identified, along with
other abnormalities of the MAP-K pathway, affecting tyrosine
kinase growth factor receptors at the cell surface (e.g.,
FGFR1) as well as BRAF V600E, KRAS, and NF1 mutations among
others. However, while the KIAA1549-BRAF fusion occurs in
all areas, the incidence of the various other mutations
identified differs in PAs that develop in different regions
of the brain. Unfortunately, from a diagnostic standpoint,
almost all mutations found have been reported in other brain
tumor types, although some retain considerable utility.
These molecular abnormalities will be reviewed, and the
difficulties in their potential use in supporting a
diagnosis of PA, when the histopathological findings are
equivocal or in the choice of individualized therapy, will
be discussed.},
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:25792358},
pmc = {pmc:PMC4436848},
doi = {10.1007/s00401-015-1410-7},
url = {https://inrepo02.dkfz.de/record/126279},
}