|
Neoplasms
|
0.200 |
AlteredExpression
|
group |
BEFREE |
Chondrosarcoma has been described before in a VHL patient and VHL protein expression has been correlated to tumor grade in a series of sporadic chondrosarcomas.
|
31673890 |
2020 |
|
Neoplasms
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Two different mutational analysis assays of a representative tumor area were performed: first, a singleplex PCR assay for evaluation of the TERT promoter region (TERTSeqS) and second, a multiplex PCR assay using primers designed to amplify regions of interest of 10 (FGFR3, PIK3CA, TP53, HRAS, KRAS, ERBB2, CDKN2A, MET, MLL, and VHL) genes (UroSeqS).
|
31028363 |
2019 |
|
Neoplasms
|
0.200 |
GeneticVariation
|
group |
BEFREE |
In this disease, the VHL protein becomes inactivated by germline mutations of the <i>VHL</i> tumor suppressor gene on chromosome 3p25-26, resulting in an overproduction of VEGF in non-hypoxic conditions.
|
31588386 |
2019 |
|
Neoplasms
|
0.200 |
Biomarker
|
group |
BEFREE |
We predict that disruption of pVHL association with certain interactors can trigger tumor transformation, inducing metabolism imbalance and ECM remodeling.
|
30943211 |
2019 |
|
Neoplasms
|
0.200 |
Biomarker
|
group |
BEFREE |
Previously we have described that RWDD3 or RSUME (RWD domain-containing protein SUMO Enhancer) sumoylates and binds VHL protein and negatively regulates HIF degradation, leading to xenograft RCC tumor growth in mice.
|
30890701 |
2019 |
|
Neoplasms
|
0.200 |
AlteredExpression
|
group |
BEFREE |
Taken together, the findings of this study suggest that the protein levels of HIF2A and VEGFA in tumor tissue may serve as independent prognostic factors in ccRCC. ccRCC patients with increased intratumoral HIF2A and VEGFA protein levels, and unaltered VHL protein levels, are not likely to benefit from sunitinib treatment following nephrectomy; however, this hypothesis requires verification by large‑scale replication studies.
|
31268155 |
2019 |
|
Neoplasms
|
0.200 |
Biomarker
|
group |
BEFREE |
In addition, SUMOylation of MITF modulates renal tumors secondary to melanoma, Similarly, SUMOylation of tumor suppressor gene VHL regulates the occurrence of renal cell carcinoma in VHL syndrome.
|
30707172 |
2019 |
|
Neoplasms
|
0.200 |
GeneticVariation
|
group |
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 |
|
Neoplasms
|
0.200 |
GeneticVariation
|
group |
BEFREE |
VHL gene mutations were documented in 3/9 cases in which DNA from peripheral blood lymphocytes was used, all with clinically manifest von Hippel-Lindau disease; instead, no VHL gene alterations were found in all of the 8 cases with sporadic extraneuraxial hemangioblastoma in which DNA from tumor tissue was analyzed.
|
29941223 |
2018 |
|
Neoplasms
|
0.200 |
GeneticVariation
|
group |
BEFREE |
VHL mutational status was determined by direct DNA sequencing on tumor tissue.
|
30514329 |
2018 |
|
Neoplasms
|
0.200 |
Biomarker
|
group |
BEFREE |
VHL is a major tumour suppressor in ccRCC and loss of VHL leads to stabilisation of hypoxia inducible factors HIF-1α and HIF-2α.
|
29872221 |
2018 |
|
Neoplasms
|
0.200 |
Biomarker
|
group |
BEFREE |
These regions included previously defined tumor suppressor clusters on chromosome 3p and 17p as well as genes associated with chromosomal instability such as TP53 and VHL.
|
29547982 |
2018 |
|
Neoplasms
|
0.200 |
Biomarker
|
group |
BEFREE |
The VHL disease results from a germline mutation of the VHL gene (located on the short arm of chromosome 3), a tumor suppressor that encodes for the VHL protein.
|
29379961 |
2018 |
|
Neoplasms
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Von Hippel-Lindau syndrome (VHL) is an autosomal-dominant hereditary tumor disease that arises owing to germline mutations in the VHL gene, located on the short arm of chromosome 3.
|
29601266 |
2018 |
|
Neoplasms
|
0.200 |
Biomarker
|
group |
BEFREE |
To understand the mechanism of cellular stress in basal-parabasal layers of normal cervical epithelium and during different stages of cervical carcinoma, we analyzed the alterations (expression/methylation/copy number variation/mutation) of HIF-1α and its associated genes LIMD1, VHL and VEGF in disease-free normal cervix (<i>n</i> = 9), adjacent normal cervix of tumors (<i>n</i> = 70), cervical intraepithelial neoplasia (CIN; <i>n</i> = 32), cancer of uterine cervix (CACX; <i>n</i> = 174) samples and two CACX cell lines.
|
29654110 |
2018 |
|
Neoplasms
|
0.200 |
GeneticVariation
|
group |
BEFREE |
The VHL tumor suppressor (VHL) gene has previously been identified to represent the causative gene of VHL.
|
29749453 |
2018 |
|
Neoplasms
|
0.200 |
GeneticVariation
|
group |
BEFREE |
We conclude that there exists a group of RCCs with abundant leiomyomatous stroma, where the epithelial component is indistinguishable from conventional clear cell RCC and distinct from clear cell (tubulo-) papillary RCC and that these tumors lack aberrations related to the function of the VHL gene, mutations in genes involved in angiogenesis, and hotspot mutations in the TCEB1 gene.
|
29084058 |
2018 |
|
Neoplasms
|
0.200 |
AlteredExpression
|
group |
BEFREE |
Patients with mutations in the von Hippel-Lindau (VHL) gene, an essential regulator of HIF activity, develop tumors in several organs including the pancreas.
|
30209343 |
2018 |
|
Neoplasms
|
0.200 |
Biomarker
|
group |
BEFREE |
The VHL gene plausibly plays a key role in the initiation and tumorigenesis of both central nervous system and extraneuraxial hemangioblastoma, therefore, the underlying molecular and genetic mechanisms of the tumor growth are initially reviewed.
|
29189208 |
2018 |
|
Neoplasms
|
0.200 |
AlteredExpression
|
group |
BEFREE |
Tumors with monoallelic inactivation of VHL underexpressed REDD1 in comparison to wtVHL tumors (P = 0.042), tumors with biallelic VHL inactivation (P < 0.005) and control tissue (P = 0.004).
|
30581339 |
2018 |
|
Neoplasms
|
0.200 |
Biomarker
|
group |
BEFREE |
Reconstitution of wild-type VHL protein (pVHL) in pVHL-defective renal carcinoma cells not only suppresses HIF activation and tumor growth, but also enhances mitochondrial respiratory chain function via mechanisms that are not fully elucidated.
|
30338240 |
2018 |
|
Neoplasms
|
0.200 |
AlteredExpression
|
group |
BEFREE |
The majority of ccRCC tumors are characterized by the loss of Von Hippel⁻Lindau tumor suppressor gene function, a stable expression of hypoxia-inducible factors 1α and 2α (HIFs), an altered expression of tumor-specific oncogenic microRNAs (miRNAs), a clear cytoplasm with dense lipid content, and overexpression of thymidine phosphorylase.
|
30380599 |
2018 |
|
Neoplasms
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Based on gene expression profiling classification, they can be classically assigned to either a hypoxic/angiogenic cluster (cluster 1 including tumors with mutations in SDHx, VHL and FH genes) or a kinase-signaling cluster (cluster 2 consisting in tumors related to RET, NF1, TMEM127 and MAX genes mutations, as well as most of the sporadic tumors).
|
29427052 |
2018 |
|
Neoplasms
|
0.200 |
GeneticVariation
|
group |
BEFREE |
This results in concurrent one-copy loss of four tumor suppressor genes that are also mutated individually at high frequency in ccRCC (ie, VHL, 80%; PBRM1, 29% to 46%; BAP1, 6% to 19%; and SETD2, 8% to 30%).
|
30372397 |
2018 |
|
Neoplasms
|
0.200 |
AlteredExpression
|
group |
BEFREE |
Finally, the inhibition of STAT3-DNMT1 interaction by SH-I-14 resulted in re-expression of tumor suppressor genes such as VHL and PDLIM4 through de-methylation of their promoter regions.
|
29137356 |
2017 |