Pilocytic Astrocytoma
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Activating point mutations of BRAF, such as BRAF (V600E), also lead to pilocytic astrocytoma.
|
23439714 |
2013 |
Pilocytic Astrocytoma
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
KIAA1549-BRAF is the most frequently identified genetic mutation in sporadic pilocytic astrocytoma (PA), creating a fusion BRAF (f-BRAF) protein with increased BRAF activity.
|
30504064 |
2019 |
Pilocytic Astrocytoma
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
More recently, cases of PA with gangliocytic differentiation (PA-GD) have been described, and these cases are thus far restricted to those with the KIAA1549-BRAF fusion.
|
31147230 |
2019 |
Pilocytic Astrocytoma
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
The data further support previous observations that these two alterations of the BRAF, KIAA1549 fusions and V600E point mutations, are associated primarily with pilocytic astrocytomas and nonpilocytic gliomas, respectively.
|
21884820 |
2011 |
Pilocytic Astrocytoma
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Gliomas in people with NF1 show alterations in the RAS/MAPK pathway, generally in the absence of BRAF alterations (common to sporadic pilocytic astrocytomas) or IDH or histone H3 mutations (common to diffuse gliomas subsets).
|
30963251 |
2020 |
Pilocytic Astrocytoma
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
BRAF mutations are most frequently detected in certain subtypes of low-grade glioma, such as pilocytic astrocytoma (PA), pleomorphic xanthoastrocytoma (PXA), ganglioglioma (GG) and dysembryoplastic neuroepithelial tumor (DNT).
|
27792249 |
2017 |
Pilocytic Astrocytoma
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Among many molecular abnormalities, BRAF mutation and mTOR activation in pilocytic astrocytomas and subependymal giant cell astrocytomas are actionable targets sensitive to vemurafenib and everolimus, respectively.
|
26118895 |
2015 |
Pilocytic Astrocytoma
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
This article provides an overview of the most common molecular markers in neurooncology, including 1p/19q codeletion in oligodendroglial tumors, mutations in the isocitrate dehydrogenase 1 and 2 genes in diffuse gliomas, hypermethylation of the O(6)-methylguanine-DNA methyltransferase gene promoter in glioblastomas and anaplastic gliomas, alterations in the epidermal growth factor receptor and phosphatase and tensin homolog genes in high-grade gliomas, as well as BRAF alterations in pilocytic astrocytomas.
|
21526954 |
2011 |
Pilocytic Astrocytoma
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
In our study we evaluated 51 PAs for BRAF duplication and BRAF V600E point mutation.
|
25066317 |
2016 |
Pilocytic Astrocytoma
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Our results further emphasize the importance of BRAF alterations in PA and the need to characterize them in a given tumor as this can affect therapeutic strategies and their potential use as tumor marker in molecular diagnostics.
|
30575814 |
2019 |
Pilocytic Astrocytoma
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
We identified 1 of 3 previously identified BRAF rearrangements in 42/70 sporadic PAs.
|
19794125 |
2009 |
Pilocytic Astrocytoma
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Adult with cerebellar anaplastic pilocytic astrocytoma associated with BRAF V600E mutation and p16 loss.
|
23196000 |
2013 |
Pilocytic Astrocytoma
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
BRAF-V600E mutations are most commonly found in pleomorphic xanthoastrocytoma, ganglioglioma, epithelioid glioblastoma, and gliomas diagnosed at a younger age; BRAF-KIAA1549 fusion is the most common BRAF alteration in pilocytic astrocytoma.
|
30265855 |
2018 |
Pilocytic Astrocytoma
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
The frequency of BRAF-KIAA1549 fusion transcripts is significantly lower in adult patients with pilocytic astrocytoma, weakening the sensitivity of this specific diagnostic marker in that age group.
|
21696415 |
2011 |
Pilocytic Astrocytoma
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Our study shows that cellular polymorphism in PAs and gangliogliomas does not affect the results of molecular analysis investigating the status of the KIAA1549-BRAF fusion gene.
|
27389560 |
2016 |
Pilocytic Astrocytoma
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Chromosomal 7q34 duplication and BRAF-KIAA1549 fusion is a characteristic genetic alteration in pilocytic astrocytomas.
|
22568401 |
2012 |
Pilocytic Astrocytoma
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
The most frequent genetic alteration identified in pediatric pilocytic astrocytomas and pilomyxoid variant is the KIAA1549-BRAF fusion, which typically results from a 2.0 Mb tandem duplication in chromosome band 7q34.
|
26945035 |
2016 |
Pilocytic Astrocytoma
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
The mitogen-activating protein kinase (MAPK) pathway and, more specifically, BRAF mutations have been shown to be prevalent in pediatric pilocytic astrocytomas and may represent one such area to target.
|
28009226 |
2017 |
Pilocytic Astrocytoma
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Abnormalities in proto-oncogene B-Raf (BRAF) are typical in several subgroups of gliomas, including pilocytic astrocytomas, optic nerve gliomas, pleomorphic xanthoastrocytomas (PXA), anaplastic PXAs and gangliogliomas.
|
30013630 |
2018 |
Pilocytic Astrocytoma
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
No significant differences regarding additional imaging features emerged between BRAF V600E-mutant and wild-type lesions, with the exception of the number of tumors with cystic components, significantly higher in BRAF V600E-mutant PAs (p = 0.011) CONCLUSION: Assessment of the DWI characteristics of GGs and PAs may assist in predicting BRAF V600E status, suggesting a radiogenomic correlation and prompt molecular characterization of these tumors.
|
31667545 |
2020 |
Pilocytic Astrocytoma
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
We report actionable targets, including frequent FGFR1 mutation in optic-pathway PA that makes them excellent candidates to anti-FGFR therapies, and BRAF non-canonical mutations in PA.
|
31673897 |
2019 |
Pilocytic Astrocytoma
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Pediatric LGG show alterations in FGFR1 and BRAF in pilocytic astrocytomas and FGFR1 alterations in diffuse astrocytomas, each converging on the mitogen-activated protein kinase signaling pathway.
|
25664944 |
2015 |
Pilocytic Astrocytoma
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Using a combined analysis of RNA sequencing and copy number variation data we identified a new BRAF fusion involving the 5' gene fusion partner GTF2I (7q11.23), not previously described in PA.
|
28448514 |
2017 |
Pilocytic Astrocytoma
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Different fusion variants involving BRAF and KIAA1549 were demonstrated, present in 80% of pilocytic astrocytomas in children.
|
20976706 |
2010 |
Pilocytic Astrocytoma
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Besides, more benign brain tumors such as ganglioglioma, dysembryoblastic neuroepithelial tumours and supratentorial pilocytic astrocytomas, only pleomorphic xanthoastrocytomas (50-78%) and epitheloid glioblastoma (50%) regularly exhibit BRAF mutations.
|
29039591 |
2017 |