|
Adrenal Gland Pheochromocytoma
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
As PC is a frequent complication in families suffering from von Hippel Lindau disease, for which mutations of the VHL gene are responsible, we also screened the 5 sporadic PC cases for VHL mutations.
|
8768845 |
1996 |
|
Adrenal Gland Pheochromocytoma
|
0.200 |
Biomarker
|
disease |
BEFREE |
In addition, VHL, SDHx (cluster 1 genes) and RET, NF1 (cluster 2 genes) germline mutations are involved in the neuronal precursor cell pathway in the pathogeneses of PCC/PGL.
|
26839173 |
2016 |
|
Adrenal Gland Pheochromocytoma
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The von Hippel-Lindau (VHL) tumour suppressorgene product is believed to be involved in the down-regulation of transcriptional elongation by preventing the association of elongin B and C with the catalytic subunit elongin A. Alterations in the human VHL gene lead to VHL disease which is associated with various rare neoplasias, including haemangioblastoma of the central nervous system, retinal angioma, clear cell renal carcinoma and pheochromocytoma.
|
9931330 |
1999 |
|
Adrenal Gland Pheochromocytoma
|
0.200 |
Biomarker
|
disease |
BEFREE |
Analyzing VHL and RET genes would be recommended only in young patients developing a single PCC.
|
19343621 |
2009 |
|
Adrenal Gland Pheochromocytoma
|
0.200 |
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 |
|
Adrenal Gland Pheochromocytoma
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
This germline point mutation in the VHL gene is often detected in type 2 VHL disease with pheochromocytoma.
|
11510758 |
2001 |
|
Adrenal Gland Pheochromocytoma
|
0.200 |
Biomarker
|
disease |
BEFREE |
Loss of von Hippel-Lindau (VHL) protein function results in an autosomal-dominant cancer syndrome known as VHL disease, which manifests as angiomas of the retina, hemangioblastomas of the central nervous system, renal clear-cell carcinomas and pheochromocytomas.
|
15162797 |
2004 |
|
Adrenal Gland Pheochromocytoma
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Differences in pheochromocytoma phenotype in VHL or NF1 are not very pronounced, but it may be of some interest to consider the two groups separately.
|
15883705 |
2005 |
|
Adrenal Gland Pheochromocytoma
|
0.200 |
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 |
|
Adrenal Gland Pheochromocytoma
|
0.200 |
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 |
|
Adrenal Gland Pheochromocytoma
|
0.200 |
Biomarker
|
disease |
BEFREE |
Since no pathogenic mutations were detected in the von Hippel-Lindau (VHL) gene, we can rule out that VHL deficiency is causing the general reduction of OXPHOS enzymes observed in the PCs investigated.
|
21196298 |
2011 |
|
Adrenal Gland Pheochromocytoma
|
0.200 |
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 |
|
Adrenal Gland Pheochromocytoma
|
0.200 |
Biomarker
|
disease |
BEFREE |
The prevalence of germ line mutations within the RET-protooncogene and the tumor suppressor genes SDHB, SDHD, and VHL in pheochromocytomas (PC) varies in recent studies from 12 to 24%, if one look at them collectively.
|
19399650 |
2009 |
|
Adrenal Gland Pheochromocytoma
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
This case revealed a VHL sequence variant IVS2+43 A>G, which was also found in one other unrelated sporadic pheochromocytoma.
|
17102081 |
2006 |
|
Adrenal Gland Pheochromocytoma
|
0.200 |
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 |
|
Adrenal Gland Pheochromocytoma
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Moreover, one of the affected members in the kindred developed pancreatic neuro-endocrine tumors without pheochromocytoma in spite of possessing the identical germline mutation of the VHL gene.
|
14767570 |
2004 |
|
Adrenal Gland Pheochromocytoma
|
0.200 |
Biomarker
|
disease |
BEFREE |
In summary, this is the first report of a novel consistent genetic alteration that is selected and specific for VHL-related pheochromocytoma, besides the two hits of the VHL gene.
|
11850829 |
2002 |
|
Adrenal Gland Pheochromocytoma
|
0.200 |
Biomarker
|
disease |
BEFREE |
In addition to RET, VHL and NF-1, genes encoding succinate dehydrogenase complex subunit B (SDHB), subunit C (SDHC), and subunit D (SDHD) are recognized as susceptibility genes for PCC and PGL.
|
20505258 |
2010 |
|
Adrenal Gland Pheochromocytoma
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Investigation of this kindred confirmed that a mutation in the VHL gene could produce isolated pheochromocytomas as the only clinical feature and was variably penetrant.
|
10627136 |
1998 |
|
Adrenal Gland Pheochromocytoma
|
0.200 |
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 |
|
Adrenal Gland Pheochromocytoma
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
VHL gene abnormalities were identified in the Chinese family with non-syndromic PCCs and patients with APS, resulting in dysfunction of pVHL.
|
25773797 |
2015 |
|
Adrenal Gland Pheochromocytoma
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Constitutional loss of function mutations in the VHL gene are responsible for the VHL syndrome, a dominantly inherited familial cancer syndrome predisposing to a variety of neoplasms, including pheochromocytoma.
|
16506218 |
2006 |
|
Adrenal Gland Pheochromocytoma
|
0.200 |
Biomarker
|
disease |
HPO |
|
|
|
|
Adrenal Gland Pheochromocytoma
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Mutational analysis of the vhl gene in patients with familial phaeochromocytoma may permit specific diagnosis of von Hippel-Lindau disease, and is a good method for the identification of asymptomatic individuals at risk of von Hippel-Lindau disease.
|
9156047 |
1997 |
|
Adrenal Gland Pheochromocytoma
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Denaturing high performance liquid chromatography detection of SDHB, SDHD, and VHL germline mutations in pheochromocytoma.
|
19215943 |
2009 |