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Von Hippel-Lindau Disease A Comprehensive Guide to Diagnosis, Treatment, and Management
Von Hippel-Lindau (VHL) disease is an inherited disorder characterized by the abnormal growth of both benign and cancerous tumors and cysts in many...
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Neurofibromatosis type1, type 2, tuberous sclerosis and Von Hippel-Lindau disease
Neurocutaneous syndromes (also known as phakomatoses) are heterogenous group of disorders that involve derivatives of the neuroectoderm. Each disease...
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Epidemiology and economic burden of Von Hippel-Lindau Disease-associated central nervous system hemangioblastomas and pancreatic neuroendocrine tumors in the United States
BackgroundTo date, real-world evidence around the clinical and economic burden related to von Hippel-Lindau (VHL) disease is limited. Therefore, this...
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Von Hippel–Lindau protein signalling in clear cell renal cell carcinoma
The distinct pathological and molecular features of kidney cancer in adaptation to oxygen homeostasis render this malignancy an attractive model for...
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Surgical resection of double advanced pancreatic neuroendocrine tumors with multiple renal cell carcinoma associated with von Hippel–Lindau disease
Von Hippel–Lindau (VHL) disease, an autosomal dominant genetic disorder caused by a germline mutation, is associated with non-functional and...
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When rare diseases crisscross within the same patient: von Hippel-Lindau and type 1 gastric neuroendocrine tumor
Von-Hippel-Lindau (VHL) is a genetic multisystem disorder characterized by visceral cysts and benign and malignant tumors in various organs. Herein,...
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Germline variants in the Von Hippel-Lindau tumor suppressor gene in Cuban patients
BackgroundVon Hippel-Lindau (VHL) syndrome is an autosomal dominantly inherited disorder that predisposes to multiple neoplasms. Patients may develop...
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Screening and surveillance recommendations for central nervous system hemangioblastomas in pediatric patients with Von Hippel-Lindau disease
PurposeVon Hippel-Lindau (VHL) disease is an autosomal-dominantly inherited tumor predisposition syndrome. One of the most common tumors are central...
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68Ga-DOTANOC PET/CT for Screening and Surveillance of Von Hippel-Lindau (VHL) disease
PurposeHereditary tumor syndrome Von Hippel-Lindau (VHL) disease is characterized by various benign and malignant tumors that are known to express...
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Familial multiple sclerosis in patients with Von Hippel-Lindau disease
BackgroundMultiple sclerosis (MS) is a progressive autoimmune demyelinating disorder. Recent studies suggest that a combination of genetic...
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Von Hippel–Lindau syndrome with a rare complication of dilated cardiomyopathy: a case report
BackgroundVon Hippel – Lindau (VHL) syndrome is an autosomal dominant hereditary disease affecting multiple organs, with pheochromocytoma in 26% of...
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Mutation in Chek2 triggers von Hippel-Lindau hemangioblastoma growth
PurposeVon Hippel-Lindau (VHL) is a rare inherited disease mainly characterized by the growth of tumours, predominantly hemangioblastomas (Hbs) in...
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An Amazing Image of Von Hippel–Lindau Syndrome
A 49-year-old woman presented with a 2-week history of painless jaundice and pruritus. She had a medical history of three surgical excisions of...
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Management of Pregnancy in a Case of Endolymphatic Sac Tumour as a Part of Von Hippel–Lindau Syndrome Complex: A Case Report and Review of Literature
Endolymphatic sac tumor (ELST) is a rare (1/30000) neoplasm with less than 200 cases reported. It is seen in 24–30% of patients with Von...
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Hemangioblastoma and mosaic von Hippel Lindau disease: rare presentation and review of the literature
Hemangioblastomas are benign vascular tumors that can occur throughout the central nervous system (CNS) sporadically or in association with von...
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The outcome of central nervous system hemangioblastomas in Von Hippel-Lindau (VHL) disease treated with belzutifan: a single-institution retrospective experience
PurposeBelzutifan is a Hypoxia Inducible Factor 2-alpha inhibitor approved in 2021 by the FDA for the treatment of renal cell carcinoma (RCC) in...
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Tumor-to-tumor metastasis of colon cancer metastasizing to a pancreatic neuroendocrine tumor associated with von Hippel-Lindau disease: a case report
Von Hippel-Lindau disease (VHL) is frequently associated with pancreatic neuroendocrine tumors (PNETs). Here, we report a case of tumor-to-tumor...
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68Ga-DOTATATE Avid Metastatic Vertebral Renal Cell Carcinoma in the Setting of von Hippel-Lindau Syndrome
Although rare, a metastatic renal cell carcinoma could present with 68 Ga-DOTATATE avidity. A 66-year-old man with von Hippel-Lindau syndrome (VHL)...
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Combined therapy guided by multimodal imaging of fifteen retinal capillary hemangioblastomas in a monocular Von Hippel- Lindau syndrome case report
BackgroundTo report the multimodal imaging and treatment of fifteen retinal capillary hemangioblastomas (RCHs)...
