ArticleFamilial cancer2022
Von Hippel-Lindau disease and rapidly progressing pheochromocytomas in siblings.
Article in Familial cancer, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
2 citing papers in PubMed, 2 citations in OpenAlex.
- Hereditary Pheochromocytoma as a Major Manifestation of von Hippel Lindau Disease (vHL) in Childhood: Long-term Follow-up of Five Patients with vHL from One FamilyJournal of clinical research in pediatric endocrinology · 2026Article
- Pediatric and adolescent von Hippel-Lindau disease: tumor profiles, genotype-phenotype correlation and comparison with adults.Journal of endocrinological investigation · 2025Article
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Authors and funding
3 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Von Hippel-Lindau (VHL) disease is an autosomal dominant inherited condition with a predisposition to the development of a variety of tumors including pheochromocytomas. A number of cancer surveillance protocols for patients with VHL have been developed, all of which are based on expert opinion. We report a case of two brothers with a strong family history of VHL type 2 due to a pathogenic germline VHL variant, specifically, a surface missense substitution, with a rapidly progressive clinical course that both presented with a large adrenal mass. Both brothers presented with large pheochromocytomas, the earliest presentation being at age 7, despite routine screening. The rapid progression and early presentation of these patients raises an important discussion around the commonly used surveillance protocols for pheochromocytoma in pediatric patients with VHL and missense mutations. We conclude that a more accelerated surveillance protocol may be adequate for VHL families with a high pheochromocytoma risk.
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