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Investigating the association of VHL gene variants with disease risk and clinicopathological outcomes in ccRCC patients from West Bengal, India.
Urol Oncol
January 2025
Department of Zoology, University of Calcutta, Kolkata, West Bengal, India.
Background: Clear cell renal cell carcinoma (ccRCC) is a prevalent and aggressive malignancy, with the von Hippel-Lindau (VHL) gene playing a critical role in its pathogenesis. However, the association between VHL gene variants and sporadic ccRCC risk remains unexplored in the Indian population. This study aimed to investigate the somatic and germline variants of the VHL gene in sporadic ccRCC patients from West Bengal, India, and their association with disease risk and clinicopathological parameters.
View Article and Find Full Text PDFRetinal capillary hemangioma in a pthisical globe: Late sequelae in a case of Von Hippel-Lindau (VHL) disease presenting with endophthalmitis.
Int J Surg Case Rep
January 2025
Department of Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi Arabia; King Saud University Medical City, King Saud University, Riyadh, Saudi Arabia; Department of Pathology and Laboratory Medicine, College of Medicine, King Saud University, Riyadh, Saudi Arabia. Electronic address:
Introduction: Retinal capillary hemangioma (RCH) is a benign vascular hamartoma that can occur sporadically or as a manifestation of Von Hippel-Lindau (VHL) disease. If left untreated, it results in adverse ocular complications depending on its location and eventual visual loss.
Case Presentation: We present a 50-year-old man who was a known case of VHL with history of left eye vision loss in the left eye at the age of 30 years.
Clinicopathological features and molecular genetic changes of primary renal hemangioblastoma, a TSC-associated tumor.
Pathol Res Pract
January 2025
Department of Orthopaedics, the second Affiliated Hospital of Wannan Medical College, Wuhu 241000, China. Electronic address:
Background: Renal hemangioblastoma (HB) is a rare extra-central nervous system (CNS) tumor, typically not linked to Von Hippel-Lindau (VHL) Syndrome, and its underlying genetic drivers and molecular mechanisms remain elusive. The objective of this study is to investigate the clinicopathological features and molecular genetic changes of primary renal hemangioblastomas.
Methods: Herein, the clinical, imaging, clinicopathological features, and immunophenotype in 3 cases of renal HB were retrospectively analyzed.
Evaluation of Tumor-Infiltrating Leukocytes in Endolymphatic Sac Tumor.
Laryngoscope
January 2025
Department of Otology and Skull Base Surgery, Eye, Ear, Nose, and Throat Hospital, Fudan University, Shanghai, China.
Objective: Endolymphatic sac tumors (ELSTs), as rare low-grade neoplasms, are primarily treated with surgery. This study analyzes the characteristics of tumor-infiltrating leukocytes (TILs) in ELSTs and their relationships with clinical features to explore the potential for immunotherapy in ELSTs.
Methods: Clinical data and tumor specimens of 10 ELSTs patients who underwent surgery were retrieved.
HIF-2α/LPCAT1 orchestrates the reprogramming of lipid metabolism in ccRCC by modulating the FBXW7-mediated ubiquitination of ACLY.
Int J Biol Sci
January 2025
Department of Urology, the First Affiliated Hospital of Anhui Medical University, Anhui Medical University, Hefei, Anhui, PR China.
The current research revealed a strong link between lipid reprogramming and dysregulated lipid metabolism to the genesis and development of clear cell renal cell carcinoma (ccRCC). Pathologically, ccRCC exhibits a high concentration of lipid droplets within the cytoplasm. HIF-2α expression has previously been demonstrated to be elevated in ccRCC caused by mutations in the von Hippel-Lindau (VHL) gene, which plays a vital role in the development of renal cell carcinoma.
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