Meningioma
|
0.390 |
AlteredExpression
|
disease |
BEFREE |
Genetic aberrations (TRAF7, KLF4, AKT1, and SMO) and the effects of genetic aberrations on the expression of inhibitory immune checkpoint molecules (PD-L1, IDO, and TDO2) in skull base meningiomas are still unclear.
|
31177425 |
2019 |
Meningioma
|
0.390 |
Biomarker
|
disease |
BEFREE |
Importantly, the discovery of clinically actionable alterations in a number of genes, including SMO, AKT1 and PIK3CA, has opened up novel potential avenues for therapeutic management of meningiomas.
|
30379704 |
2018 |
Meningioma
|
0.390 |
Biomarker
|
disease |
BEFREE |
Genotyping of SMO and AKT1 is likely to be high yield in anterior skull base meningiomas with available surgical tissue.
|
27885953 |
2017 |
Meningioma
|
0.390 |
GeneticVariation
|
disease |
BEFREE |
Meningiomas in the SMO-mutant group had an overall 36% recurrence rate, significantly higher than in the AKT1-mutant group (16%) and in the "SMO and AKT1 wildtype" group (11%) (χ2 test, P = .04).
|
28082415 |
2017 |
Meningioma
|
0.390 |
Biomarker
|
disease |
BEFREE |
As most meningiomas in this location are indolent SMO subtype lesions, our report suggests that even though rare, aggressive NF2 subtype meningiomas can also occur along the midline anterior skull base.
|
29045680 |
2017 |
Meningioma
|
0.390 |
Biomarker
|
disease |
BEFREE |
In addition to mutations in POLR2A, NF2, SMARCB1, TRAF7, KLF4, AKT1, PIK3CA, and SMO, we also report somatic mutations in AKT3, PIK3R1, PRKAR1A, and SUFU in meningiomas.
|
27548314 |
2016 |
Meningioma
|
0.390 |
GeneticVariation
|
disease |
BEFREE |
Similar to prior reports, we identified AKT1 and SMO mutations in a subset of non-NF2-mutant meningiomas (ie, ∼9% and ∼6%, respectively).
|
26826201 |
2016 |
Meningioma
|
0.390 |
GeneticVariation
|
disease |
BEFREE |
A subset of meningiomas lacking NF2 alterations harbored recurrent oncogenic mutations in AKT1 (p.Glu17Lys) and SMO (p.Trp535Leu) and exhibited immunohistochemical evidence of activation of these pathways.
|
23334667 |
2013 |
Meningioma
|
0.390 |
Biomarker
|
disease |
CTD_human |
A subset of meningiomas lacking NF2 alterations harbored recurrent oncogenic mutations in AKT1 (p.Glu17Lys) and SMO (p.Trp535Leu) and exhibited immunohistochemical evidence of activation of these pathways.
|
23334667 |
2013 |
Meningioma
|
0.390 |
GeneticVariation
|
disease |
BEFREE |
SMO mutations, which activate Hedgehog signaling, were identified in ~5% of non-NF2 mutant meningiomas.
|
23348505 |
2013 |