(1) Background: Hemangiomas in Von Hippel-Lindau (VHL) syndrome patients are typically benign but pose threats due to their vital locations involving the central nervous system and the retina. An MRI is currently recommended as the gold standard for tumors associated with VHL in the head region. This narrative review aims to comprehensively outline current standards and recent findings related to imaging of retinal and CNS hemangiomas in Von Hippel-Lindau syndrome. (2) Material and Methods: A review in adherence to PRISMA guidelines using the search string "Von Hippel-Lindau hemangioblastoma imaging" was conducted on PUBMED and SCOPUS databases. (3) Results: After reviewing 455 titles and abstracts, 20 publications fulfilling the inclusion criteria were analyzed. The analysis included studies describing MRI, CT, optical coherence tomography, and PET/CT. (4) Conclusion: While MRI remains the gold standard for diagnosing head tumors in Von Hippel-Lindau syndrome, various PET/CT methods show promise as alternative imaging modalities.
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http://dx.doi.org/10.3390/diagnostics14030309 | DOI Listing |
Appl Immunohistochem Mol Morphol
January 2025
Department of Medical and Surgical Sciences and Advanced Technologies "G.F. Ingrassia," Anatomic Pathology, University of Catania.
The histologic differential diagnosis between intracranial hemangioblastoma (HB) and metastatic clear cell renal cell carcinoma may be challenging, especially considering that both tumors exhibit clear cell morphology and can be associated with vHL mutation and/or Von Hippel-Lindau syndrome. As the execution of immunohistochemical analyses is often mandatory, the expression of PAX8 has been traditionally considered a reliable marker of metastatic clear cell renal cell carcinoma, being consistently negative in intracranial HB. However, as in recent years, some cases of PAX8-positive HBs have been reported in the literature; we studied the expression of this antibody on a series of 23 intracranial HB, showing that about 40% of these tumors may express PAX8 and that this immunoreactivity is often focal and weak.
View Article and Find Full Text PDFPathol 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.
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.
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.
View Article and Find Full Text PDFCurr Cancer Drug Targets
January 2025
Medical Oncology, Department of Medical and Surgical Sciences, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.
Systemic therapy for metastatic Renal Cell Carcinoma (mRCC) has dramatical-ly improved in the last years because of the use of immunotherapy with checkpoint inhibi-tor combinations with or without targeted therapies against the Vascular Endothelial Growth Factor Receptors (VEGFR). As a result, patients with mRCC have prolonged sur-vival time, but they ultimately develop resistance and the disease progresses, which high-lights the critical need for novel treatment options. The Hypoxia-inducible Factor (HIF) pathway is central to the pathophysiology of ccRCC and von Hippel-Lindau (VHL) disease.
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