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 …

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。

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 Factor alpha (HIF-α) thereby inhibiting the transcription of genes that are required for cell growth ...

Recent insights into the role of the VHL tumor suppressor gene in hereditary and sporadic clear cell carcinoma of the kidney (ccRCC) have led to new treatments for patients with metastatic ccRCC, although virtually all patients eventually succumb to ...

2025年2月8日 · Clear-cell renal cell carcinoma (ccRCC) is the most common subtype of kidney malignancy. ccRCC is considered a major health concern worldwide because its numbers of incidences and deaths continue to rise and are predicted to continue rising in the foreseeable future. ... Therefore, the results from studies with use of only VHL + ccRCC cell line ...

3 天之前 · The microenvironment of clear cell renal cell carcinoma (ccRCC) poses an intriguing interplay between both tumor-cell-intrinsic biology and tumor-immune reciprocity. ccRCC is classically driven by loss of the VHL tumor suppressor gene, promoting hypoxia-inducible factor (HIF) persistence, which ultimately results in increased angiogenesis and tumor growth programs.

1 天前 · A similar study from a geographically neighboring Poland detected VHL somatic mutations in 40% (8/20) of the ccRCC cases, almost double the frequency of somatic mutations observed in our study (Marek-Bukowiec et al. 2021), while another kidney tumor study from Hungary not only detected a comparable frequency (25%, 6/24) of VHL mutations in ...

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 ...

2 天之前 · Additionally, VHL mutations may cause abnormal SFMBT1 expression, leading to high C1QL1 levels, which promote tumor progression via the YAP-EMT pathway. ... Clear cell renal cell carcinoma (ccRCC ...