|
KIAA1549
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Pilocytic astrocytomas (PCAs) are characterized by two dominant molecular alterations of the BRAF gene, i.e., BRAFV600E mutation and KIAA1549-BRAF fusions which show a differential pattern of frequency across different age-groups.
|
31321520 |
2019 |
|
KIAA1549
|
0.400 |
Biomarker
|
disease |
BEFREE |
Pilocytic astrocytomas are grade 1 tumors usually occurring in children and young adults with KIAA1549-BRAF fusion defining the majority of pilocytic astrocytomas.
|
31355086 |
2019 |
|
KIAA1549
|
0.400 |
Biomarker
|
disease |
BEFREE |
The review of imaging features indicated that cyst formation is associated with the existence of KIAA1549-BRAF fusion in PA and GG and the lack of BRAF mutation in GG.
|
31147232 |
2019 |
|
KIAA1549
|
0.400 |
Biomarker
|
disease |
BEFREE |
Detection of the KIAA1549-BRAF fusion gene in cells forming microvascular proliferations in pilocytic astrocytoma.
|
31329636 |
2019 |
|
KIAA1549
|
0.400 |
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 |
|
KIAA1549
|
0.400 |
Biomarker
|
disease |
BEFREE |
A Multiplex Quantitative Reverse Transcription Polymerase Chain Reaction Assay for the Detection of KIAA1549-BRAF Fusion Transcripts in Formalin-Fixed Paraffin-Embedded Pilocytic Astrocytomas.
|
31087282 |
2019 |
|
KIAA1549
|
0.400 |
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 |
|
KIAA1549
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Therefore, we analyzed a training cohort of 55 pilocytic astrocytomas in which the KIAA1549-BRAF fusion status was known by RNA sequencing used as our gold standard technique.
|
29802359 |
2018 |
|
KIAA1549
|
0.400 |
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 |
|
KIAA1549
|
0.400 |
Biomarker
|
disease |
BEFREE |
However, KIAA1549-BRAF fusion gene was identified by fluorescence in situ hybridization (FISH), supporting for the diagnosis of PA.
|
29768357 |
2018 |
|
KIAA1549
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
KIAA1549-BRAF fusion is the most common genetic event in pilocytic astrocytoma (PA), and leads to activation of the mitogen activated protein kinase (MAPK) signaling pathway.
|
29141672 |
2017 |
|
KIAA1549
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
Taken together, we have established the first patient-derived long term expandable PA cell line expressing the KIAA1549:BRAF-fusion suitable for preclinical drug testing.
|
28002790 |
2017 |
|
KIAA1549
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
A recurrent feature of PA is deregulation of the mitogen activated protein kinase (MAPK) pathway most often through KIAA1549-BRAF fusion, but also by other BRAF- or RAF1-gene fusions and point mutations (e.g.BRAFV600E).
|
28448514 |
2017 |
|
KIAA1549
|
0.400 |
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 |
|
KIAA1549
|
0.400 |
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 |
|
KIAA1549
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
These results indicate that pODGs with the KIAA1549-BRAF fusion may represent a subset of this rare tumor that shares molecular and genetic features of pilocytic astrocytomas.
|
25794445 |
2015 |
|
KIAA1549
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Case 1 was likely a pilocytic astrocytoma (PA) with three deletions in 7q33q34 and an exon 15-9 KIAA1549-BRAF fusion.
|
25040262 |
2015 |
|
KIAA1549
|
0.400 |
Biomarker
|
disease |
BEFREE |
The KIAA1549:BRAF fusion gene is considered a driver genetic event in pilocytic astrocytoma.
|
25382612 |
2015 |
|
KIAA1549
|
0.400 |
Biomarker
|
disease |
BEFREE |
Thus, in this small cohort, 15-9 KIAA1549-BRAF fusion was associated with midline PAs located outside of the cerebellum; these tumors, which are generally difficult to resect, are prone to recurrence.
|
26222501 |
2015 |
|
KIAA1549
|
0.400 |
Biomarker
|
disease |
BEFREE |
In summary, we confirmed the high frequency of KIAA1549:BRAF fusion in PAs and its association with a better outcome.
|
26083571 |
2015 |
|
KIAA1549
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Despite their histologic similarity with pilocytic astrocytomas (PAs), RGNTs do not harbor KIAA1549-BRAF fusions or BRAF mutations, which represent the most common genetic alteration in PAs.
|
24806303 |
2014 |
|
KIAA1549
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
The unique predilection of these tumors to form within the optic pathway and brainstem (NF1-PA) and cerebellum (sporadic PA) raises the possibility that gliomagenesis requires more than biallelic inactivation of the NF1 tumor suppressor gene or expression of the KIAA1549:BRAF transcript.
|
23624918 |
2014 |
|
KIAA1549
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
This study identified the expression of KIAA1549-BRAF fusion gene and BRAF V600E mutation, mutations at exon 4 of the IDH1 and IDH2 genes in samples of pilocytic astrocytomas (PA) and grade-II astrocytomas (A-II) pediatric patients.
|
24532263 |
2014 |
|
KIAA1549
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Activation of the MAP Kinase (MAPK) pathway caused by the BRAFV600E mutation or the KIAA1549-BRAF fusion has been reported in pediatric GG and PA, respectively.
|
25524464 |
2014 |
|
KIAA1549
|
0.400 |
Biomarker
|
disease |
BEFREE |
The rate of BRAF-KIAA1549 fusion was high in these PAs (5/7 tumors) including four extracerebellar examples.
|
24057326 |
2013 |