|
Clear-cell metastatic renal cell carcinoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Non-silent mutation of VHL may be a predictor for the outcome of ccRCC treated with axitinib.
|
31007253 |
2019 |
|
Clear-cell metastatic renal cell carcinoma
|
0.100 |
PosttranslationalModification
|
disease |
BEFREE |
The molecular mechanisms involved in pRCC development and drug resistance are more diverse than in clear-cell RCC, in which inactivation of VHL occurs in the majority of tumours.
|
31602010 |
2019 |
|
Clear-cell metastatic renal cell carcinoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
The results for 3p deletion, VHL gene mutation or VHL gene promoter region hypermethylation testing, along with the diffuse CD10-positivity in 2 cases confirmed 21 cases as clear cell papillary RCC (CCPRCC; CK7+, CA9+; no 3p loss, no VHL abnormality) and 10 cases as clear cell RCC (CCRCC; CK7+, CA9+; no 3p loss, VHL abnormality mutation/hypermethylation present).
|
31656019 |
2019 |
|
Clear-cell metastatic renal cell carcinoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Since ccRCC tumors with PBRM1 mutations respond to targeted therapy differently than tumors with BAP1 mutations, we focused on ccRCC-specific edges associated with tumors that exhibit alternate mutation profiles: VHL-PBRM1 or VHL-BAP1.
|
30814637 |
2019 |
|
Clear-cell metastatic renal cell carcinoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
VHL mutation or morphological features suggesting a clear cell RCC were not detected.
|
29405994 |
2018 |
|
Clear-cell metastatic renal cell carcinoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
In conclusion, this meta-analysis indicates that VHL gene alteration has no prognostic or predictive value in patients with clear cell RCC.
|
28103578 |
2017 |
|
Clear-cell metastatic renal cell carcinoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
One tumour without 3p alteration by FISH revealed VHL mutation and 3p deletion at aCGH; thus, it was re-classified as clear cell RCC.
|
27923499 |
2017 |
|
Clear-cell metastatic renal cell carcinoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Because of an association between Von Hippel-Lindau (VHL) genes with chromosomal loss in 3p25-26 and clear cell RCC, miRNAs have attracted considerable scientific interest over the last years.
|
29165391 |
2017 |
|
Clear-cell metastatic renal cell carcinoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Molecular alterations in the VHL gene were not restricted to clear-cell RCCs (ccRCCs).
|
24727139 |
2015 |
|
Clear-cell metastatic renal cell carcinoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
One TFE3-negative tumour with normal 7/17 but LOH 3p (VHL abnormality) was diagnosed as clear cell RCC.
|
25544614 |
2015 |
|
Clear-cell metastatic renal cell carcinoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
While mutations of SETD2, KDM5C, and BAP1 were absent in multicystic clear cell RCC, mutations of VHL (P = .016) and PBRM1 (P = .017) were significantly more common among solid clear cell RCC.
|
24029645 |
2014 |
|
Clear-cell metastatic renal cell carcinoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Common genetic aberrations in renal cell carcinomas (RCCs) include loss of function of the VHL gene in clear-cell RCC, overexpression of the c-MET gene in papillary RCC type I, deficiency in the FH gene in papillary RCC type II and loss of heterozygozity of the BHD gene in chromophobe RCC.
|
23895657 |
2013 |
|
Clear-cell metastatic renal cell carcinoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In this review, these new findings are examined and placed in the context of the well-established association of clear cell RCC (ccRCC) with mutations in the von Hippel-Lindau (VHL) gene and resultant aberrant hypoxia inducible factor (HIF) signaling.
|
22638109 |
2012 |
|
Clear-cell metastatic renal cell carcinoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In addition, we detected mutation of VHL gene in clear cell RCC, but found no VHL gene mutation in clear cell papillary RCC.
|
20952286 |
2011 |
|
Clear-cell metastatic renal cell carcinoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
G-band karyotype showed the structural abnormality of chromosome 3 and both components of clear cell RCC and RAT-like area revealed the identical VHL gene mutation.
|
20952290 |
2011 |
|
Clear-cell metastatic renal cell carcinoma
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
The majority of clear cell RCCs, the major histological subtype, have genetic or epigenetic inactivation of the von Hippel-Lindau (VHL) gene.
|
21228928 |
2010 |
|
Clear-cell metastatic renal cell carcinoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Von Hippel-Lindau (VHL) gene loss is an important factor in the development of clear cell RCC, however: loss of VHL can result in tumors which express both HIF1 and HIF2, or HIF2 alone, correlating with distinct pathway activities.
|
20154618 |
2010 |
|
Clear-cell metastatic renal cell carcinoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Haploinsufficiency of TRC8 may facilitate development of clear cell-RCC in association with VHL mutations, and may increase risk for other tumor types.
|
19642973 |
2009 |
|
Clear-cell metastatic renal cell carcinoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
To investigate whether RCC CpG methylation status was influenced by histopathology and VHL status we performed high-throughput epigenetic profiling using the Illumina Goldengate Methylation Array in 62 RCC (29 RCC from von Hippel-Lindau (VHL) disease patients, 20 sporadic clear cell RCC with wild type VHL and 13 sporadic papillary RCC).
|
19493342 |
2009 |
|
Clear-cell metastatic renal cell carcinoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
The VHL (von Hippel-Lindau) tumour-suppressor gene is inactivated in VHL disease and in sporadic cases of CCRCC [clear-cell RCC (renal cell carcinoma)]. pVHL (VHL protein) functions as part of an E3 ubiquitin ligase complex that targets proteins for proteasomal degradation.
|
18481984 |
2008 |
|
Clear-cell metastatic renal cell carcinoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In addition, statistically significant CNA are detected and associated with the pathological features: VHL mutation status, tumor grades, and sarcomatoid component in clear cell RCC and in types 1 and 2 of papillary RCC.
|
18682315 |
2008 |
|
Clear-cell metastatic renal cell carcinoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Taken together, CAIX expression and VHL mutational status are able to stratify patients with clear cell RCC into distinct groups with regards to clinicopathological variables and prognosis, with low CAIX expression and absence of VHL mutation being associated with a poor clinicopathological phenotype and diminished survival.
|
18464292 |
2008 |
|
Clear-cell metastatic renal cell carcinoma
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Although there is relatively little information on the mechanisms of tumorigenesis of clear cell RCC without VHL inactivation, a subset of familial cases harbors a balanced constitutional chromosome 3 translocation.
|
17205537 |
2007 |
|
Clear-cell metastatic renal cell carcinoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
It is of great interest to know whether RCCs occurring in the dialytic kidneys harbour the same or similar mutations of the von Hippel-Lindau (VHL) gene as conventional dialysis-unrelated clear cell RCCs so often do.
|
17438007 |
2007 |
|
Clear-cell metastatic renal cell carcinoma
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Thus it is likely that sustained upregulation of ADFP following VHL inactivation is involved in the morphological appearance of clear-cell RCC.
|
15682440 |
2005 |