|
Pheochromocytoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Carbonic anhydrase 9 immunohistochemistry as a tool to predict or validate germline and somatic VHL mutations in pheochromocytoma and paraganglioma-a retrospective and prospective study.
|
31383958 |
2020 |
|
Pheochromocytoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A recurrent synonymous VHL variant (c.414A>G, p.Pro138Pro) confers susceptibility to PHEO and VHL disease through splice disruption, leading to VHL dysfunction.
|
30946460 |
2019 |
|
Pheochromocytoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Germline mutations were more frequently seen with bilateral pheochromocytomas (p = 0.001): 80% of patients with bilateral disease had germline mutations (4 VHL, 3 RET, 1 MAX).
|
28477304 |
2018 |
|
Pheochromocytoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Approximately 40% of the PPGL tumours carry a germ line mutation in one of a number of susceptibility genes of which those that are found in succinate dehydrogenase (SDH) or in von Hippel-Lindau (VHL) genes manifest a strong pseudohypoxic phenotype.
|
29450727 |
2018 |
|
Pheochromocytoma
|
0.800 |
Biomarker
|
disease |
BEFREE |
A case of pheochromocytoma with negative MIBG scintigraphy, PET-CT and genetic tests (VHL included) and a rare case of post-operative erectile dysfunction.
|
29860716 |
2018 |
|
Pheochromocytoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
About 25-30% of pheochromocytomas/paragangliomas develop under the conditions of a hereditary tumor syndrome a third of which are caused by mutations in the VHL gene.
|
28187001 |
2017 |
|
Pheochromocytoma
|
0.800 |
Biomarker
|
disease |
BEFREE |
Germline mutations in the succinate dehydrogenase (SDHA, SDHB, SDHC, SDHD, SDHAF2) or Von Hippel-Lindau (VHL) genes cause hereditary paraganglioma/pheochromocytoma.
|
28099933 |
2017 |
|
Pheochromocytoma
|
0.800 |
Biomarker
|
disease |
BEFREE |
The majority of patients with bilateral pheochromocytomas had VHL (79%).
|
27865588 |
2017 |
|
Pheochromocytoma
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Genetic predisposition to kidney cancer.
|
27899189 |
2016 |
|
Pheochromocytoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
VHL gene mutation analysis of a Chinese family with non- syndromic pheochromocytomas and patients with apparently sporadic pheochromocytoma.
|
25773797 |
2015 |
|
Pheochromocytoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Molecular genetic studies in the past few years have identified >10 genes involved in the pathogenesis of pheochromocytomas and paragangliomas, including RET oncogene, involved in the pathogenesis of multiple endocrine neoplasia (MEN) 2A and 2B, von Hippel-Lindau tumor-suppressor gene, neurofibromatosis type 1 gene, succinate dehydrogenase, THEM127, and several others.
|
26262510 |
2015 |
|
Pheochromocytoma
|
0.800 |
Biomarker
|
disease |
BEFREE |
We hypothesised that PC/PGLs containing SDHx or VHL mutations, and succinate dehydrogenase (SDH)-deficient gastrointestinal stromal tumours (GISTs), would overexpress miR-210 relative to non-SDH or -VHL-mutated counterparts. miR-210 was analysed by quantitative PCR in i) 39 PC/PGLs, according to genotype (one SDHA, five SDHB, seven VHL, three NF1, seven RET, 15 sporadic, one unknown) and pathology (18 benign, eight atypical, 11 malignant, two unknown); ii) 18 GISTs, according to SDHB immunoreactivity (nine SDH-deficient and nine SDH-proficient) and iii) two novel SDHB-mutant neurosphere cell lines. miR-210 was higher in SDHx- or VHL-mutated PC/PGLs (7.6-fold) compared with tumours without SDHx or VHL mutations (P=0.0016). miR-210 was higher in malignant than in unequivocally benign PC/PGLs (P=0.05), but significance was lost when benign and atypical tumours were combined (P=0.08).
|
24623741 |
2014 |
|
Pheochromocytoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations of the von Hippel-Lindau (VHL) gene are associated with pheochromocytomas and paragangliomas, but the role of VHL in sympathoadrenal homeostasis is unknown.
|
25385837 |
2014 |
|
Pheochromocytoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A new germline VHL gene mutation in three patients with apparently sporadic pheochromocytoma.
|
22946750 |
2013 |
|
Pheochromocytoma
|
0.800 |
Biomarker
|
disease |
BEFREE |
The VHL gene is epigenetically inactivated in pheochromocytomas and abdominal paragangliomas.
|
24149047 |
2013 |
|
Pheochromocytoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Evaluation of SDHB, SDHD and VHL gene susceptibility testing in the assessment of individuals with non-syndromic phaeochromocytoma, paraganglioma and head and neck paraganglioma.
|
23072324 |
2013 |
|
Pheochromocytoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
P.Arg82Leu von Hippel-Lindau (VHL) gene mutation among three members of a family with familial bilateral pheochromocytoma in India: molecular analysis and in silico characterization.
|
23626751 |
2013 |
|
Pheochromocytoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Pheochromocytomas (PHEOs) and paragangliomas (PGLs) related to mutations in the mitochondrial succinate dehydrogenase (SDH) subunits A, B, C, and D, SDH complex assembly factor 2, and the von Hippel-Lindau (VHL) genes share a pseudohypoxic expression profile.
|
23555188 |
2013 |
|
Pheochromocytoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Interestingly, several other missense mutations reported at same codon in the VHL protein that might be associated with a low risk of renal cell carcinoma (RCC) but not pheochromocytoma appear to be associated with a VHL type 1 phenotype.
|
23224817 |
2013 |
|
Pheochromocytoma
|
0.800 |
Biomarker
|
disease |
BEFREE |
Germline mutations in the susceptibility genes RET, SDHB, SDHD, and VHL have been reported in 7.5-24% of patients with pheochromocytoma (Pheo) or paraganglioma (PGL) and sporadic presentation.
|
22270996 |
2012 |
|
Pheochromocytoma
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
Transcriptome studies indeed revealed that pheochromocytomas and paragangliomas can be classified into two major clusters depending on their gene expression profile: Cluster 1 comprises samples associated with a hypoxic signature such as SDHx- and VHL-related tumors and cluster 2 includes RET, NF1, and TMEM127-mutated tumors, as well as most of sporadic tumors.
|
22183643 |
2012 |
|
Pheochromocytoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Most familial cases of pheochromocytoma and/or paraganglioma and 10-20% sporadic cases carry germline mutations in VHL, RET, NF1, SDHA, SDHB, SDHC, SDHD, SDHAF2, TMEM127, or MAX.
|
22328163 |
2012 |
|
Pheochromocytoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Germline mutations in the RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, MAX, TMEM127, NF1 or VHL genes are identified in about 30% of patients with pheochromocytoma or paraganglioma and somatic mutations in RET, VHL or MAX genes are reported in 17% of sporadic tumors.
|
22962301 |
2012 |
|
Pheochromocytoma
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
Although the best-characterized function of the VHL protein (pVHL) is regulation of hypoxia-inducible factor-α (HIFα), pVHL also controls the development of pheochromocytoma through HIF-independent pathways by regulating JunB.
|
22020339 |
2012 |
|
Pheochromocytoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In contrast to the previously held belief that only 10% of cases had a genetic component, currently about one-third of all aPCA/eFPGL cases are thought to be attributable to germline mutations in at least nine genes (NF1, RET, SDHA, SDHB, SDHC, SDHD, TMEM127, MAX and VHL).
|
21896620 |
2012 |