Paraganglioma
|
0.400 |
Biomarker
|
disease |
BEFREE |
Mutations in genes involved in the cellular hypoxia response have been identified in tumors, and recently EPAS1, encoding HIF2α, has been revealed to be a new gene involved in the pathogenesis of pheochromocytoma and abdominal paraganglioma.
|
24741025 |
2014 |
Paraganglioma
|
0.400 |
Biomarker
|
disease |
BEFREE |
Significance analysis of microarray yielded 875 differentially expressed genes between HIF2A and other pseudohypoxic PGLs after normalization to adrenal medulla (false discovery rate 0.01).
|
27659016 |
2016 |
Paraganglioma
|
0.400 |
Biomarker
|
disease |
BEFREE |
Expression of HIF-1alpha, HIF-2alpha (EPAS1), and their target genes in paraganglioma and pheochromocytoma with VHL and SDH mutations.
|
16954163 |
2006 |
Paraganglioma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Through sequencing of the HIF2A using DNA from paraganglioma in 15-year-old male patient, we identified a novel mutation of HIF2A: a heterozygous C to A substitution at base 1589 in exon 12 of HIF2A.
|
24819565 |
2014 |
Paraganglioma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Here we report two novel somatic gain-of-function mutations in the gene encoding hypoxia-inducible factor 2α (HIF2A) in two patients, one presenting with paraganglioma and the other with paraganglioma and somatostatinoma, both of whom had polycythemia.
|
22931260 |
2012 |
Paraganglioma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
A novel EPAS1/HIF2A germline mutation in a congenital polycythemia with paraganglioma.
|
23090011 |
2013 |
Paraganglioma
|
0.400 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Novel exon 12 mutations in the HIF2A gene associated with erythrocytosis.
|
18378852 |
2008 |
Paraganglioma
|
0.400 |
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 |
Paraganglioma
|
0.400 |
Biomarker
|
disease |
BEFREE |
The finding that EPAS1 is involved in the sporadic presentation of the disease not only increases the percentage of PCCs/PGLs with known driver mutations, but also highlights the relevance of studying other hypoxia-related genes in apparently sporadic tumors.
|
23418310 |
2013 |
Paraganglioma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
About 60% of Pheochromocytoma (PCC) and Paraganglioma (PGL) patients have either germline or somatic mutations in one of the 12 proposed disease causing genes; SDHA, SDHB, SDHC, SDHD, SDHAF2, VHL, EPAS1, RET, NF1, TMEM127, MAX and H-RAS.
|
24466223 |
2014 |
Paraganglioma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The HIF2α mutation-induced polycythemia with PCC/PGL is a rare syndrome with no treatment for cure.
|
28116635 |
2017 |
Paraganglioma
|
0.400 |
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 |
Paraganglioma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Somatic HIF2A mutations (p.A530V, p.P531S, and p.D539N) were identified in DNA extracted from PGLs of 3 patients.
|
30644531 |
2019 |
Paraganglioma
|
0.400 |
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 |
Paraganglioma
|
0.400 |
Biomarker
|
disease |
BEFREE |
New HIF2α inhibitors: potential implications as therapeutics for advanced pheochromocytomas and paragangliomas.
|
28667082 |
2017 |
Paraganglioma
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
Immunohistochemistry of skull base PGL demonstrated heavy expression of TH and HIF-2α but reduced expression of HIF-1α.
|
26492543 |
2016 |
Paraganglioma
|
0.400 |
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 |
Paraganglioma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Recently, a new syndrome characterized by multiple PGLs and somatostatinomas associated with congenital polycythemia due to somatic mutations in HIF2A has been reported.
|
23539726 |
2013 |
Paraganglioma
|
0.400 |
Biomarker
|
disease |
BEFREE |
The existence of mutated HIF2A in these tumours, the role of oncometabolites on HIFs stabilisation and a recent concept proposing how hereditary PGLs converge on the hypoxia-signalling pathway, brought solid evidence of the existence of PGL hypoxiom.
|
28946040 |
2017 |
Paraganglioma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
In patient 1, we identified a somatic HIF2A mutation (c.1586T>C; p.Leu529Pro) in DNA extracted from both paragangliomas.
|
24276449 |
2014 |