4,691 results match your criteria Von Hippel-Lindau Syndrome


Early-onset and severe pulmonary arterial hypertension due to a novel compound heterozygous association of rare mutations: A case report and review of existing data.

Pulm Circ 2022 Apr 1;12(2):e12052. Epub 2022 Apr 1.

Department of Cardiology, CUB Hôpital Erasme Université Libre de Bruxelles (ULB) Brussels Belgium.

Very rare cases of pulmonary arterial hypertension (PAH) have been linked to homozygous or compound heterozygous von Hippel-Lindau () tumor suppressor gene mutations, while heterozygous mutations lead to VHL tumor syndrome. Although those entities are defined, the genotype-phenotype correlation is incompletely understood, and patient management recommendations are lacking. Here, we describe a case of severe early-onset PAH due to a so-far unreported compound heterozygous association of mutations and review the existing data. Read More

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Targeting hypoxia-inducible factor pathways in sporadic and Von Hippel-Lindau syndrome-related kidney cancers.

Crit Rev Oncol Hematol 2022 Jun 18:103750. Epub 2022 Jun 18.

Medical Oncology Unit, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy; Faculty of Medicine, Università Cattolica del Sacro Cuore, Rome, Italy.

Hereditary and sporadic renal cell carcinomas (RCCs) are often associated with Von Hippel-Lindau (VHL)-gene inactivation. Patients with VHL disease have an increased risk of RCC, leading to bilateral nephrectomy and dialysis. In patients with advanced RCC, no standard second-lines are available after progression to immune checkpoint inhibitors (ICIs), and new agents are required to manage progression. Read More

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FDA Approval Summary: Belzutifan for von Hippel-Lindau disease associated tumors.

Clin Cancer Res 2022 Jun 21. Epub 2022 Jun 21.

United States Food and Drug Administration, Silver Spring, MD, United States.

On August 13, 2021, the United States Food and Drug Administration (FDA) approved belzutifan (WELIREG, Merck), a first-in-class hypoxia-inducible factor (HIF) inhibitor for adult patients with von Hippel-Lindau (VHL) disease who require therapy for associated renal cell carcinoma (RCC), central nervous system (CNS) hemangioblastomas, or pancreatic neuroendocrine tumors (pNET), not requiring immediate surgery. The FDA granted approval based on the clinically meaningful effects on overall response rate (ORR) observed in patients enrolled in Study MK-6482-004. All 61 patients had VHL-associated RCC; some also had CNS hemangioblastomas and/or pNET. Read More

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von Hippel-Lindau disease: Updated guideline for diagnosis and surveillance.

Eur J Med Genet 2022 Jun 13;65(8):104538. Epub 2022 Jun 13.

Department of Clinical Genetics, Odense University Hospital, Odense, Denmark; Department of Clinical Research, University of Southern Denmark, Odense, Denmark.

von Hippel Lindau disease (vHL) is caused by a hereditary predisposition to multiple neoplasms, especially hemangioblastomas in the retina and CNS, renal cell carcinomas (RCC), pheochromocytomas, neuroendocrine pancreatic tumours (PNET) and endolymphatic sac tumours. Evidence based approaches are needed to ensure an optimal clinical care, while minimizing the burden for the patients and their families. This guideline is based on evidence from the international vHL literature and extensive research of geno- and phenotypic characteristics, disease progression and surveillance effect in the national Danish vHL cohort. Read More

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Symptoms and clinical features in patients affected by endolymphatic sac tumor: a systematic review and meta-analysis.

Eur Arch Otorhinolaryngol 2022 Jun 15. Epub 2022 Jun 15.

Department of Clinical and Molecular Sciences, ENT Unit, Polytechnic University of Marche, Ancona, Italy.

Purpose: Most ELST data in the literature are case studies or limited to small cohorts (< 16 patients). We evaluated the main clinical signs observed at endolymphatic sac tumor (ELST) diagnosis in patients with or without Von Hippel-Lindau disease.

Methods: We conducted a comprehensive literature search in PubMed, Scopus, and Web of Science. Read More

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Retinal Capillary Hemangioma Leading to a Diagnosis of von Hippel-Lindau Disease in a Patient with Retinopathy of Prematurity.

Case Rep Ophthalmol 2022 May-Aug;13(2):323-329. Epub 2022 May 2.

Institute for Vision Research, University of Iowa, Iowa City, Iowa, USA.

Von Hippel-Lindau (VHL) disease is a rare inherited cancer syndrome that results in the development of tumor formation in multiple systems. In the eye, retinal capillary hemangioma (RCH) can lead to severe vision loss. Retinopathy of prematurity (ROP) is likewise a rare disease in which abnormal retinal vasculature develops in premature infants. Read More

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Suprasellar Hemangioblastoma on 68Ga-DOTATATE PET/CT.

Clin Nucl Med 2022 Jun 10. Epub 2022 Jun 10.

From the Department of Nuclear Medicine, Marmara University Pendik Training and Research Hospital, Istanbul, Turkey.

Abstract: Von Hippel-Lindau (VHL) disease is an autosomal dominant hereditary cancer syndrome that is characterized by the presence of various malignant and benign tumors, including retinal and central nervous system hemangioblastomas. Hemangioblastomas are highly vascular tumors that can occur sporadically or within VHL disease. Herein, we present 68Ga-DOTATATE PET/CT findings of a unique case of suprasellar hemangioblastoma in a 52-year-old man with VHL disease. Read More

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Belzutifan (Welireg™) for von Hippel Lindau disease.

Trends Pharmacol Sci 2022 Jun 9. Epub 2022 Jun 9.

Department of Molecular and Cell Biology, University of Connecticut, Storrs, CT 06269, USA; Department of Pharmaceutical Sciences, University of Connecticut, Storrs, CT 06269, USA. Electronic address:

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Current Systemic Treatments for the Hereditary Cancer Syndromes: Drug Development in Light of Genomic Defects.

Am Soc Clin Oncol Educ Book 2022 Apr;42:1-17

Breast Cancer Unit and Hereditary Cancer Unit, Medical Oncology Department, University Hospital Vall d'Hebron, Barcelona, Spain.

Advances in the genetic basis of different tumors have led to identification of tumor vulnerabilities that can be turn into targeted therapies. In this regard, PARP inhibitors cause synthetic lethality with tumors harboring or genetic alterations. On the other hand, tumors with microsatellite instability, either due to germline or sporadic alterations, are candidates for immune checkpoint inhibitors. Read More

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Case Report of a Hemangioblastoma With Large Blood Vessels and Rare Vascular Anomalies: Is It Fibromuscular Dysplasia or Arteriovenous Malformation Association?

Cureus 2022 Apr 27;14(4):e24527. Epub 2022 Apr 27.

Neuropathology, Instituto Nacional de Neurología y Neurocirugia, Mexico City, MEX.

Hemangioblastoma is considered a benign neoplasm characterized by abnormal vasculature and stromal cells; several pathophysiological mechanisms have been proposed, such as genetic predisposition, hormonal factors, and arterial wall ischemia. Fibromuscular dysplasia is characterized by hyperplasia or thinning of the smooth muscle, elastic fibre destruction, fibrous tissue proliferation, and arterial wall disorganization. We present a cerebellar hemangioblastoma case not associated with Von Hippel Lindau syndrome. Read More

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Extraneuraxial Hemangioblastoma: An Unusual Soft Tissue Neoplasm that Mimics More Common Entities but Carries Distinct Clinical Implications.

Int J Surg Pathol 2022 Jun 1:10668969221102560. Epub 2022 Jun 1.

12285Geisel School of Medicine at Dartmouth, Hanover, NH, USA.

Hemangioblastoma, one of the characteristic tumors associated with Von Hippel-Lindau (VHL) disease, most often presents in the central nervous system (CNS) but can uncommonly arise in extraneuraxial, or previously referred to as peripheral, locations. Without the clinical context of known VHL disease, hemangioblastoma may not enter the differential for a soft tissue mass outside the CNS. Here, we present two patients with diagnostically challenging extraneuraxial hemangioblastoma to highlight the importance of considering this entity within the differential diagnosis of soft tissue neoplasms containing clear cells and delicate vasculature. Read More

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DNA methylation profiling of central nervous system hemangioblastomas identifies two distinct subgroups.

Brain Pathol 2022 May 30:e13083. Epub 2022 May 30.

Institute of Neuropathology, University Hospital Münster, Münster, Germany.

Hemangioblastomas (HBs) of the central nervous system are highly vascular neoplasms that occur sporadically or as a manifestation of von Hippel-Lindau (VHL) disease. Despite their benign nature, HBs are clinically heterogeneous and can be associated with significant morbidity due to mass effects of peritumoral cysts or tumor progression. Underlying molecular factors involved in HB tumor biology remain elusive. Read More

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Infundibular hemangioblastoma resection: Video case report.

Surg Neurol Int 2021 21;12:296. Epub 2021 Jun 21.

Departments of Neurosurgery and Radiology, Jacobs School of Medicine and Biomedical Sciences, University at Buffalo, Buffalo, New York, United States.

Background: Hemangioblastomas are benign (World Health Organization Grade I), highly vascular neoplasms commonly associated with Von Hippel-Lindau (VHL) disease.[2] The VHL tumor-suppressor gene, located on chromosome 3, is implicated in sporadic cases and cases associated with VHL disease. Hemangioblastomas most commonly arise in the posterior fossa; however, they may also be found supratentorially or within the spinal cord. Read More

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Multidisciplinary integrated care pathway for von Hippel-Lindau disease.

Cancer 2022 May 17. Epub 2022 May 17.

Department of Endocrine Oncology, University Medical Center Utrecht, Utrecht, the Netherlands.

Background: Clinical pathways are care plans established to describe essential steps in the care of patients with a specific clinical problem. They translate (inter)national guidelines into local applicable protocols and clinical practice. The purpose of this article is to establish a multidisciplinary integrated care pathway for specialists and allied health care professionals in caring for individuals with von Hippel-Lindau (VHL) disease. Read More

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Anlotinib for the Treatment of Multiple Recurrent Lumbar and Sacral Cord Hemangioblastomas: A Case Report.

Front Oncol 2022 27;12:859157. Epub 2022 Apr 27.

Department of Oncology, The First Affiliated Hospital of Nanjing Medical University, Nanjing, China.

Background: Hemangioblastoma (HB) is a rare and highly vascularized tumor that originates from the central nervous system as well as other part of the body. They can appear sporadically or as part of von Hippel-Lindau (VHL) disease, a rare hereditary cancer syndrome. Although surgery can cure the majority of HBs, the disease shows a treatment-refractory challenge upon recurrence. Read More

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The Protective Role of pVHL in Imiquimod-Induced Psoriasis-like Skin Inflammation.

Int J Mol Sci 2022 May 7;23(9). Epub 2022 May 7.

Departamento de Inmunología, Escuela Nacional de Ciencias Biológicas del Instituto Politécnico Nacional, Plan de Ayala y Prolongación de Carpio, Col. Santo Tomas, Alcaldía Miguel Hidalgo, Ciudad de México C.P. 11340, Mexico.

Psoriasis is a chronic inflammatory disease distinguished by an excessive proliferation and abnormal differentiation of keratinocytes. Immune cells, such as T lymphocytes and neutrophils, and inflammatory cytokines, such as Tumor Necrosis Factor-α (TNF-α) and interleukin 17 (IL-17), are essential for maintaining psoriatic lesions. Additionally, a hypoxic milieu present in the skin promotes the expression of transcriptional factor hypoxia-inducible factor-1 alpha (HIF-1α). Read More

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Immunohistochemical Expression Pattern of Theragnostic Targets SSTR2 and PSMA in Endolymphatic Sac Tumors: A Single Institution Case Series.

Head Neck Pathol 2022 May 11. Epub 2022 May 11.

Department of Pathology and Molecular Pathology, University Hospital Zurich, Schmelzbergstrasse 12, 8091, Zurich, Switzerland.

Background: Endolymphatic sac tumors are rare neoplasia characterized by slow growth. However, their clinical impact should not be underestimated, considering their potential for local aggressive behavior and strong association with von Hippel-Lindau syndrome. Therefore, early detection with emerging theragnostic examinations such as Ga-DOTATATE-PET/CT might improve patient management and reduce morbidity. Read More

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Multidisciplinary neurocutaneous syndrome clinics: a systematic review and institutional experience.

Neurosurg Focus 2022 05;52(5):E2

1Department of Neurosurgery, University of Oklahoma Health Sciences Center, Oklahoma City, Oklahoma.

Objective: Neurocutaneous syndromes have variable multisystem involvement. The multiorgan involvement, potential pathologies, and various treatment options necessitate collaboration and open discussion to ensure optimal treatment in any given patient. These disorders provide quintessential examples of chronic medical conditions that require a lifelong, multidisciplinary approach. Read More

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A glance at the emerging diagnostic biomarkers in the most prevalent genitourinary cancers.

Saudi J Biol Sci 2022 Apr 15;29(4):2072-2084. Epub 2022 Jan 15.

Department of Clinical Laboratory Sciences, Faculty of Applied Medical Sciences, Najran University, 1988, Najran 61441, Saudi Arabia.

Genitourinary cancers comprise of a heterogenous group of cancers of which renal cell carcinoma, urothelial bladder carcinoma, and prostate adenocarcinoma are the most commonly encountered subtypes. A lot of research is ongoing using various strategies for exploration of novel biomarkers for genitourinary cancers. These biomarkers would not reduce the need for invasive diagnostic techniques but also could be used for early and accurate diagnosis to improve the clinical management required for the disease. Read More

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Impact of RSUME Actions on Biomolecular Modifications in Physio-Pathological Processes.

Front Endocrinol (Lausanne) 2022 21;13:864780. Epub 2022 Apr 21.

Instituto de Investigación en Biomedicina de Buenos Aires (IBioBA) - Consejo Nacional de Investigaciones Científicas y Técnicas (CONICET) - Partner Institute of the Max Planck Society, Buenos Aires, Argentina.

The small RWD domain-containing protein called RSUME or RWDD3 was cloned from pituitary tumor cells with increasing tumorigenic and angiogenic proficiency. RSUME expression is induced under hypoxia or heat shock and is upregulated, at several pathophysiological stages, in tissues like pituitary, kidney, heart, pancreas, or adrenal gland. To date, several factors with essential roles in endocrine-related cancer appear to be modulated by RWDD3. Read More

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Combined therapy guided by multimodal imaging of fifteen retinal capillary hemangioblastomas in a monocular Von Hippel- Lindau syndrome case report.

BMC Ophthalmol 2022 May 6;22(1):205. Epub 2022 May 6.

Department of Ophthalmology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, 450000, China.

Background: To report the multimodal imaging and treatment of fifteen retinal capillary hemangioblastomas (RCHs) associated with Von Hippel-Lindau syndrome in a monocular patient during a long-term following-up, which supply high-resolution exquisite SS-OCTA images (VG200; SVision Imaging, Ltd., Luoyang, China) and management experience about multiple RCHs.

Case Presentation: A 34-year-old monocular male patient complained decreased visual acuity (20/100) without pain and redness in the left eye five years ago. Read More

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VHL Ser65 mutations enhance HIF2α signaling and promote epithelial-mesenchymal transition of renal cancer cells.

Cell Biosci 2022 May 3;12(1):52. Epub 2022 May 3.

Department of Urology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, 430030, China.

Background: Von Hippel-Lindau (VHL) disease is an autosomal dominant genetic neoplastic disorder caused by germline mutation or deletion of the VHL gene, characterized by the tendency to develop multisystem benign or malignant tumors. The mechanism of VHL mutants in pathogenicity is poorly understand.

Results: Here we identified heterozygous missense mutations c. Read More

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Neuropathologic features of central nervous system hemangioblastoma.

J Pathol Transl Med 2022 May 3;56(3):115-125. Epub 2022 May 3.

Department of Laboratory Medicine and Pathology, Division of Neuropathology, University of Washington, Seattle, WA, USA.

Hemangioblastoma is a benign, highly vascularized neoplasm of the central nervous system (CNS). This tumor is associated with loss of function of the VHL gene and demonstrates frequent occurrence in von Hippel-Lindau (VHL) disease. While this entity is designated CNS World Health Organization grade 1, due to its predilection for the cerebellum, brainstem, and spinal cord, it is still an important cause of morbidity and mortality in affected patients. Read More

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Papillary cystadenoma of the epididymis.

Autops Case Rep 2022 14;12:e2021374. Epub 2022 Apr 14.

Florida International University, Herbert Wertheim College of Medicine, Miami, FL, USA.

Background: Papillary cystadenoma is a rare benign neoplasm of the epididymis. It may occur sporadically or in association with von Hippel-Lindau disease (VHLD). Papillary cystadenoma of the epididymis (PCE) is a benign mimic of metastatic clear cell renal cell carcinoma (CCRCC) given their histologic similarities. Read More

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[Modern molecular-genetic aspects of histological variants of renal cell carcinoma].

Urologiia 2022 May(2):130-135

Department of Pathology, I.M. Sechenov First Moscow State Medical University, Moscow, Russia.

The article presents the main molecular mechanisms of the pathogenesis of renal cell carcinoma. The molecular pathways that determine the development of histological variants of renal cell carcinoma and the role of stem cells markers in the carcinogenesis of these tumors are considered. Read More

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Large scale genotype- and phenotype-driven machine learning in Von Hippel-Lindau disease.

Hum Mutat 2022 Apr 27. Epub 2022 Apr 27.

Division of Medical Oncology and Hematology, Princess Margaret Cancer Centre, University Health Network and Sinai Health System, Toronto, Ontario, Canada.

Von Hippel-Lindau (VHL) disease is a hereditary cancer syndrome where individuals are predisposed to tumor development in the brain, adrenal gland, kidney, and other organs. It is caused by pathogenic variants in the VHL tumor suppressor gene. Standardized disease information has been difficult to collect due to the rarity and diversity of VHL patients. Read More

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Retroperitoneal paraganglioma with loss of heterozygosity of the von Hippel-Lindau gene: a case report and review of the literature.

Endocr J 2022 Apr 23. Epub 2022 Apr 23.

Division of Endocrinology and Metabolism, Tottori University Faculty of Medicine, Yonago 683-8504, Japan.

Von Hippel-Lindau (VHL) disease is an autosomal dominant disease related to germline mutations in VHL. In VHL disease, pheochromocytoma develops in 10%-20% of patients because of germline mutations and loss of heterozygosity of VHL. However, the rate of paraganglioma associated with VHL is low compared with that of pheochromocytoma, and the reason is unknown. Read More

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Familial Neoplastic Syndromes.

Neurol Clin 2022 05 31;40(2):405-420. Epub 2022 Mar 31.

Department of Neurological Surgery, The Ohio State University Wexner Medical Center, The Ohio State University, 410 West 10th Avenue, Doan Hall N1019, Columbus, Ohio 43210, USA.

Familial neoplastic syndromes commonly impact the central and peripheral nervous systems. The most common neoplastic syndromes clinically relevant to neurology and neurologic surgery, include neurofibromatosis type 1, neurofibromatosis type 2, and Von Hippel-Lindau disease. We define the epidemiology, genetics, clinical presentation, and manifestations, as well as screening recommendations and management paradigms for these syndromes and other familial neoplastic syndromes that affect the nervous system. Read More

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