ReviewLindau's disease: Review of the literature and study of a large kindred☆
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Cited by (516)
Consensus Guidelines for Ocular Surveillance of von Hippel-Lindau Disease
2024, OphthalmologyDiseases of Hereditary Renal Cell Cancers
2023, Urologic Clinics of North Americavon Hippel-Lindau disease: Updated guideline for diagnosis and surveillance
2022, European Journal of Medical GeneticsCitation Excerpt :In a small proportion of patients, the diagnosis vHL is made because the patient fulfils the clinical diagnostic criteria although no pathogenic or likely pathogenic variant in VHL is identified (Cybulski et al., 2002; Hes et al., 2007). The consensus in the literature states that, in individuals with a first-degree relative with vHL, a clinical diagnosis can be made when the individual has at least one vHL manifestation, and that in a patient without a family history of vHL, the diagnosis vHL can be confirmed in patients with two different vHL manifestations of which at least one is a hemangioblastoma (Table 1), (Lonser et al., 2003; Maher et al., 2011; MELMON and ROSEN, 1964; Nordstrom-O'Brien et al., 2010). We support this recommendation, as this will promote a broader diagnostic approach in patients with abdominal neoplasms only, in order to explore differential diagnoses.
Quadrigeminal cistern cystic hemangioblastoma: A transcystic approach
2021, Interdisciplinary Neurosurgery: Advanced Techniques and Case ManagementVhl-related neuroendocrine neoplasms and beyond: An Israeli specialized center real-life report
2020, Endocrine PracticeCitation Excerpt :Von Hippel-Lindau (VHL) disease was first described at the end of the 19th century, and remained a clinical diagnosis based on the presence of a cluster of vascular and solid tumors occurring over the lifetime, arising in variable combinations: retinal hemangiomas, central nervous system (CNS) hemangioblastomas (highly vascular tumors, from spinal cord to cerebellum and brainstem), renal cysts, and/or clear cell renal cell carcinoma (RCC), pheochromocytoma/paraganglioma (Pheo/PGL), pancreatic lesions (cysts and pancreatic neuroendocrine neoplasms [PNENs]), endolymphatic highly vascular sac tumors at the posterior portion of the temporal bone, and finally, papillary cystadenomas of the epididymis or broad ligament (1). In 1964, Melmon and Rosen (2) proposed a clinical classification of familial or sporadic VHL based on the association of the various typical tumors. In 1989, Lamiell et al (3) described a 43 members kindred with VHL without Pheo whereas 2 years later Neumann et al (4) described VHL as an autosomal dominant inherited disease in 92 gene carriers from 29 kindreds, all presenting with vascular lesions as core features, but with Pheo present in only 7 kindreds, whereas in the others, renal, pancreatic, or epididymal lesions occurred in variable associations.
A pancancer analysis of the clinical and genomic characteristics of multiple primary cancers
2024, Scientific Reports
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This study was supported by funds from the Addie and Henry Meyer Memorial Foundation allocated by the Committee on Research of the University of California School of Medicine.
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Present address: National Heart Institute, National Institutes of Health, Bethesda, Maryland.
- 1
From the Department of Medicine, University of California School of Medicine, San Francisco, California.