VHL基因在染色体位置，3号染色体短臂在透明细胞肾细胞癌 (ccRCC)中尤为重要，因为 染色体3p丢失是一个关键的致病事件。因此，该染色体位置的基因，包括VHL和染色质重塑基因SETD2, PBRM1和BAP1，被认为与ccRCC的发病机制有关。

The basic biology underlying the development of clear-cell renal cell carcinoma (ccRCC) is critically dependent on the von Hippel-Lindau gene (VHL), whose protein product is important in the cell's normal response to hypoxia. Aberrations in VHL's function, either through mutation or promoter hyperme …

The purpose of this review will be to provide an overview of the genetics of clear-cell RCC (ccRCC), and in particular, the central role played by the von Hippel–Lindau gene (VHL). It will also link those principles to the targeted therapies, which have become central to the contemporary management of ccRCC.

2023年4月17日 · To study the impact of intratumoral VHL heterogeneity observed in human ccRCC, we engineered VHL gene deletion in four RCC models, including a new primary tumor cell line derived from an...

Clear cell renal cell carcinoma (ccRCC) progression, which is the most common form of kidney cancer, is associated with the loss of the Von Hippel-Lindau (VHL) gene in renal epithelium. VHL promotes proteasomal degradation of Hypoxia Inducible ...

Alteration of the VHL gene by mutation, loss of heterozygosity, and promoter methylation has been found to be important to renal cell cancer pathogenesis. In this review, we will discuss the potential role of VHL mutation as a prognostic and predictive marker for renal cell cancer.

von Hippel-Lindau (VHL)肿瘤抑制基因的双等位基因失活是大多数透明细胞肾细胞癌（ccRCC）中重要的遗传事件，一些核心表观遗传调控基因 (包括PBRM1、 BAP1 、 SETD2 和 KDM5C)、细胞周期调控基因 (包括 TP53 、 CDKN2A 和 MYC)或 PI3K途径 基因 (包括PIK3CA、PTEN、MTOR和TSC1)的突变或 ...

2016年9月1日 · This article puts together the sequential pathogenesis of VHL mutant ccRCC by elaborating these mechanisms and the interplay of oncogenic pathways, epigenetics, metabolism and immune evasion, with a perspective on potential therapeutic strategies.

2024年5月1日 · VHL mutation was found to promote CE accumulation by upregulating HIFα and subsequent PI3K/AKT/mTOR/SREBPs pathway. Third, our study discovers cholesterol esterification as a vulnerable metabolic target for ccRCC treatment.

2024年2月15日 · Expression of non-hydroxylatable Beclin1 P54A abrogates VHL-mediated autophagy inhibition and significantly reduces the tumor-suppressing effect of VHL. In addition, Beclin1 P54-OH levels are inversely correlated with autophagy levels in wild-type VHL-expressing human ccRCC specimens, and with poor patient prognosis.