Pheochromocytoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
A pseudohypoxic transcriptional signature characterizes pheochromocytomas and paragangliomas (PPGLs) of the cluster I, mainly represented by tumors with mutations in von Hippel-Lindau (<i>VHL</i>), endothelial PAS domain-containing protein 1 (<i>EPAS1</i>), or succinate dehydrogenase (<i>SDH</i>) subunit genes.
|
31142060 |
2019 |
Pheochromocytoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
Impact of Extrinsic and Intrinsic Hypoxia on Catecholamine Biosynthesis in Absence or Presence of Hif2α in Pheochromocytoma Cells.
|
31035382 |
2019 |
Pheochromocytoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
New HIF2α inhibitors: potential implications as therapeutics for advanced pheochromocytomas and paragangliomas.
|
28667082 |
2017 |
Pheochromocytoma
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
3-MT = 3-methoxytyramine; EPAS1 = endothelial pas domain protein 1; FH = fumarate hydratase; HIF2A = hypoxia inducible factor type 2A; MEN2 = multiple endocrine neoplasia type 2; NF1 = neurofibromatosis type 1; PNMT = phenylethanolamine N-methyltransferase; PPGL = pheochromocytoma and paraganglioma; RET = rearranged during transfection; SDH = succinate dehydrogenase; SDHAF2 = succinate dehydrogenase complex assembly factor 2; TCA = tricarboxylic acid; TH = tyrosine hydroxylase; TMEM127 = transmembrane protein 127; VHL = von Hippel-Lindau.
|
28332883 |
2017 |
Pheochromocytoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The aim of this study was to further characterize EPAS1 alterations in non-familial pheochromocytomas.
|
24741025 |
2014 |
Pheochromocytoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Recent data suggest that both clusters are interconnected via the HIF signaling and its role in tumorigenesis is supported by newly described somatic and germline mutations in HIF2A gene in patients with PHEOs/PGLs associated with polycythemia, and in some of them also with somatostatinoma.
|
24908231 |
2014 |
Pheochromocytoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
Our results support a direct oncogenic role for HIF2A in human neoplasia and strengthen the link between hypoxic pathways and pheochromocytomas and paragangliomas.
|
23533246 |
2013 |
Pheochromocytoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
This case represents the first association of a somatic HIF2A gain-of-function mutation with PHEO and congenital polycythemia, and it alerts physicians to perform proper genetic screening in patients presenting with multiple norepinephrine-producing PHEOs and polycythemia.
|
23539726 |
2013 |
Pheochromocytoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In this issue of Endocrine-Related Cancer, Toledo et al. report the identification of activating mutations in the HIF2 (EPAS1) transcription factor in a subset of sporadic pheochromocytomas and paragangliomas.
|
23653463 |
2013 |
Pheochromocytoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Tumoral EPAS1 (HIF2A) mutations explain sporadic pheochromocytoma and paraganglioma in the absence of erythrocytosis.
|
23418310 |
2013 |
Pheochromocytoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Expression of HIF-1alpha, HIF-2alpha (EPAS1), and their target genes in paraganglioma and pheochromocytoma with VHL and SDH mutations.
|
16954163 |
2006 |
Pheochromocytoma
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Real-time quantitative reverse transcriptase (RT)-PCR measurements confirmed that vascular endothelial growth factor and endothelial PAS domain protein 1 mRNA levels were significantly higher (three- and sixfold, respectively) than those observed in three sporadic benign pheochromocytomas.
|
11605159 |
2001 |