Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Childhood Pleomorphic Xanthoastrocytoma
0.100 GeneticVariation disease BEFREE Review of histology showed malignant PXA with BRAF V600E mutation. 31748891 2020
Childhood Pleomorphic Xanthoastrocytoma
0.100 GeneticVariation disease BEFREE A BRAF V600E mutation and homozygous deletion of CDKN2A/B were observed, which is similar to the genetic features of PXA or epithelioid glioblastoma, but the additional loss of ATRX nuclear immunoreactivity and absence of TERT promoter mutation were unusual findings, indicating a novel genetic profile. 30972500 2019
Childhood Pleomorphic Xanthoastrocytoma
0.100 GeneticVariation disease BEFREE Because mutations of FANCA and BRAF and copy number variations of CDKN2A/B are more frequent in PXA than in glioblastoma, they might be used to distinguish the 2 tumors. 30496796 2019
Childhood Pleomorphic Xanthoastrocytoma
0.100 GeneticVariation disease BEFREE The authors treated 4 BRAF V600E patients, each with a different type of primary brain tumor (pilocytic astrocytoma, papillary craniopharyngioma, ganglioglioma, and pleomorphic xanthoastrocytoma) with the combination of dabrafenib and trametinib. 31675726 2019
Childhood Pleomorphic Xanthoastrocytoma
0.100 GeneticVariation disease BEFREE Pleomorphic xanthoastrocytoma is a rare brain tumor with unique high frequency of BRAF V600E mutation which is plausible for targeted therapy. 29200156 2018
Childhood Pleomorphic Xanthoastrocytoma
0.100 GeneticVariation disease BEFREE The efficacy of bevacizumab, temozolomide, lomustine (CCNU), irinotecan (CPT 11), a tyrosine kinase inhibitor (sorafenib), a selective MEK1/2 inhibitor (cobimetinib), and a BRAF inhibitor (vemurafenib) were assessed in two subcutaneous xenografts: D645 PXA (V600E-mutant) and D2363 PXA (V600E-non-mutant) (n = 5-10 mice). 30120661 2018
Childhood Pleomorphic Xanthoastrocytoma
0.100 GeneticVariation disease BEFREE In post-hoc subgroup analysis, hypermutator tumors (mismatch repair deficiency and somatic POLE/POLD1 mutations) and those biologically resembling pleomorphic xanthoastrocytoma ([PXA]-like, driven by BRAF_V600E or NF1 mutation) had significantly more CD8<sup>+</sup> tumor-infiltrating lymphocytes, and longer survival with the addition of BEV. 29763623 2018
Childhood Pleomorphic Xanthoastrocytoma
0.100 GeneticVariation disease BEFREE CDKN2A/B deletion was present in similar proportion of PXA (83%), A-PXA (93%), BRAF V600E (87%), and wild-type (87%) tumors. 28181325 2018
Childhood Pleomorphic Xanthoastrocytoma
0.100 GeneticVariation disease BEFREE The ability of the polio: rhinovirus recombinant, PVSRIPO, to infect PXA (645 [BRAF V600E mutation], 2363) and medulloblastoma (D283, D341) cells were determined by viral propagation measurement and cell proliferation. 29878245 2018
Childhood Pleomorphic Xanthoastrocytoma
0.100 GeneticVariation disease BEFREE To our knowledge only five cases of PXA with melanin pigment have been reported and none of which described BRAF V600E mutation analysis. 27645472 2017
Childhood Pleomorphic Xanthoastrocytoma
0.100 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
Childhood Pleomorphic Xanthoastrocytoma
0.100 GeneticVariation disease BEFREE Specifically, both the initial and recurrent tumors of the patient showed the same BRAF V600E mutation, which refutes previous suggestions that BRAF mutations may be limited to intracranial PXAs and also shows that BRAF mutations may occur earlier in PXA tumorigenesis. 27956254 2017
Childhood Pleomorphic Xanthoastrocytoma
0.100 GeneticVariation disease BEFREE In summary, we showed that PLGG tumorigenicity was low despite the presence of putative CSCs, and our data supported GFAP<sup>-</sup>/Vimentin<sup>+</sup> cells, <i>CDKN2A</i> homozygous deletion in trisomy chromosome 9 cells, and <i>BRAF V600E</i> mutation as candidate drivers of tumor progression in the PXA xenografts. 29152094 2017
Childhood Pleomorphic Xanthoastrocytoma
0.100 GeneticVariation disease BEFREE BRAF V600E mutation was present in four eGBMs and four ePXAs. 26238627 2016
Childhood Pleomorphic Xanthoastrocytoma
0.100 GeneticVariation disease BEFREE Both components were positive for the mutant IDH1 R132H and showed loss of ATRX expression, whereas BRAF V600E was restricted to the PXA-like component. 26414224 2016
Childhood Pleomorphic Xanthoastrocytoma
0.100 GeneticVariation disease BEFREE BRAF V600E mutations are found frequently in circumscribed low-grade gliomas such as pleomorphic xanthoastrocytoma (PXA) and extra-cerebellar pilocytic astrocytoma, or epithelioid glioblastomas (E-GBM), a rare variant of GBM. 26445861 2016
Childhood Pleomorphic Xanthoastrocytoma
0.100 GeneticVariation disease BEFREE Our data indicate, that in addition to the histological and immunohistochemical evaluation, investigation of MGMT promoter methylation and in particular BRAF V600E mutations represent reliable additional tools to sustain differentiation of gcGBM from PXA on a molecular basis. 27253461 2016
Childhood Pleomorphic Xanthoastrocytoma
0.100 GeneticVariation disease BEFREE The BRAF V600E mutation occurs frequently in certain brain tumors such as pleomorphic xanthoastrocytoma, ganglioglioma, and pilocytic astrocytoma, and less frequently in epithelioid and giant cell glioblastoma. 25885250 2015
Childhood Pleomorphic Xanthoastrocytoma
0.100 GeneticVariation disease BEFREE BRAF mutation and anaplasia may be predictive factors of progression-free survival in adult pleomorphic xanthoastrocytoma. 26454767 2015
Childhood Pleomorphic Xanthoastrocytoma
0.100 GeneticVariation disease BEFREE Prognostic significance of histological anaplasia and BRAF V600E mutation were retrospectively evaluated in 74 patients with pleomorphic xanthoastrocytoma (PXA). 25318587 2015
Childhood Pleomorphic Xanthoastrocytoma
0.100 GeneticVariation disease BEFREE BRAF-mutated pleomorphic xanthoastrocytoma is associated with temporal location, reticulin fiber deposition and CD34 expression. 24345274 2014
Childhood Pleomorphic Xanthoastrocytoma
0.100 GeneticVariation disease BEFREE Composite pleomorphic xanthoastrocytoma-epithelioid glioneuronal tumor with BRAF V600E mutation - report of three cases. 24321241 2014
Childhood Pleomorphic Xanthoastrocytoma
0.100 GeneticVariation disease BEFREE These findings suggest that epithelioid GBM may arise from a PXA with a BRAF V600E mutation. 24894018 2014
Childhood Pleomorphic Xanthoastrocytoma
0.100 GeneticVariation disease BEFREE Although this glioma was difficult to clarify, diagnosis of pleomorphic xanthoastrocytoma with anaplastic feature was suggested based on the association of some pathological feature (eosinophilic granular bodies, reticulin network and diffuse CD34 expression) and the BRAF V600E mutation. 24857351 2014
Childhood Pleomorphic Xanthoastrocytoma
0.100 GeneticVariation disease BEFREE We evaluated the immunohistochemical (IHC) detection of BRAF V600E mutation in PXA by comparing to gold standard molecular analysis and investigating the interobserver variability of the IHC scoring. 24252190 2013