Von Hippel-Lindau disease is an important hereditary tumor syndrome with a clear option for effective treatment if diagnosed in time. Interdisciplinary cooperation is the key to successful management. Major components of the disease are retinal capillary hemangioblastomas, hemangioblastomas of cerebellum, brain stem and spine, renal clear cell carcinomas, pheochromocytomas, multiple pancreatic cysts and islet cell carcinomas, tumors of the endolymphatic sac of the inner ear, and cystadenomas of the epididymis and broad ligament. A well structured screening program should be performed at yearly intervals.
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Relationship between ZHX2 Expression and VHL Gene Alteration in VHL-associated and Sporadic Hemangioblastomas of the Central Nervous System.
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Department of Urology, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Central nervous system hemangioblastoma (CNS-HB) is the most common manifestation of von Hippel-Lindau disease (VHL). The main axis of the CNS-HB pathway is the VHL-HIF signaling pathway. Recently, we proposed an alternative VHL-JAK-STAT pathway in CNS-HB.
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Clin Neurol Neurosurg
January 2025
Department of Neurosurgery, Beijing Tiantan Hospital, Capital Medical University, Fengtai District, Beijing 100070, China.
Purpose: Hemangioblastomas (HBs) occurring in the cervical spinal region are infrequently reported. Surgical resection of cervical HBs poses a significant challenge, and the long-term therapeutic outcomes remain unclear.
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Department of Zoology, University of Calcutta, Kolkata, West Bengal, India.
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Int J Surg Case Rep
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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.
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