ArticleJournal of endocrinological investigation2025
Pediatric and adolescent von Hippel-Lindau disease: tumor profiles, genotype-phenotype correlation and comparison with adults.
Article in Journal of endocrinological investigation, 2025. 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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2 citing papers in PubMed.
- Clinical and Genetic Characteristics of Pheochromocytoma and Paraganglioma: A Single-Center Experience Including a Rare VHL Variant.Journal of clinical medicine · 2026Article
- Intracranial hemangioblastomas in children: Clinical-radiological characteristics, microsurgical strategy, and long-term outcomes in a 10-year single-center cohort.Brain & spine · 2026Article
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14 authors.
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Abstract
purposeData on pediatric/adolescent von Hippel-Lindau (VHL) disease is sparse, and surveillance/management recommendations rely on expert opinions/extrapolations from adults. We aimed to characterize the childhood/adolescent VHL disease phenotype, compare it with adults, and identify genotype-phenotype correlations.
methodsRetrospective review of children/adolescents (≤ 19 years) and adults with VHL disease from a single endocrine center (2000-2024). Only neoplasms diagnosed until age 19 years were included in the childhood/adolescent group and compared with the last follow-up of adults.
resultsTwenty-six children/adolescents (median age:15.5 years) were identified. By age 19 years, 81% had pheochromocytoma/paraganglioma (PPGL, of which 10% head-neck), 42% central nervous system hemangioblastoma (CNS-HB), 31% each retinal hemangioblastoma (RHB) and pancreatic neuroendocrine tumor (PNET), and none endolymphatic sac tumor/renal cell carcinoma. At diagnosis, all PPGLs were symptomatic (median size 4.5 cm). CNS-HBs showed female preponderance, with high disease burden (60% symptomatic, 50% synchronous) and surgical requirement by 19 years of age. 2/8 pediatric patients needed surgery for symptomatic PNET before recommended surveillance initiation age (15 years). Two children/adolescents developed polycythemia during follow-up. Compared to adults (n = 39), pediatric/adolescent PPGL patients had significantly higher plasma free-normetanephrine/bilateral/extra-adrenal disease and 8.3-fold higher operative-site recurrence. Neoplasm frequency and other characteristics by 19 years resembled adults. Childhood/adolescent PPGLs occurred predominantly (16/17), and PNETs exclusively with missense variants. Codon 167 missense variants were associated with synchronous bilateral pheochromocytomas.
conclusionIn the largest Asian study describing children/adolescents with VHL disease, we report severe pediatric/adolescent phenotype comparable to adults, need for childhood/adolescent HNPGL, and earlier PNET surveillance, particularly with missense variants.
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