{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,3]],"date-time":"2026-08-03T22:15:00Z","timestamp":1785795300770,"version":"3.56.0"},"reference-count":48,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2021,5,24]],"date-time":"2021-05-24T00:00:00Z","timestamp":1621814400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Oncol."],"abstract":"<jats:sec><jats:title>Background<\/jats:title><jats:p>Hemangioblastoma is a benign tumor of the central nervous system and may appear as a component of von Hippel-Lindau (VHL) disease. At present, approximately 40 cases of optic nerve HGBs have been reported in the literature. VHL disease is a rare autosomal-dominant inherited cancer syndrome with different phenotypes caused by variants in the VHL gene. Herein, the authors describe a case of a pediatric patient with VHL disease and with optic nerve HGB, a rare phenotypic expression. The purpose of this study was to explore the genotype-phenotype, clinical features, treatment and follow-up of VHL-associated hemangioblastomas in pediatric patients.<\/jats:p><\/jats:sec><jats:sec><jats:title>Case Description<\/jats:title><jats:p>A 12-year-old boy presented with vision loss, headache and dizziness at our hospital. Magnetic resonance imaging (MRI) revealed a large (19.8 mm*18.5 mm*23.5 mm) irregular mass located in the suprasellar region. The mass was successfully removed after craniotomy and microsurgical treatment. The pathological diagnosis was left optic nerve HGB. Genetic analyses showed p.Pro86Leu (c. 257C&amp;gt;T) heterozygous missense mutations in the VHL gene.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>This is the first reported pediatric case of VHL-associated optic nerve HGB. The genotype-phenotype correlation of VHL disease may provide new evidences for predicting tumor penetrance and survival. Gross tumor resection combined with stereotactic radiosurgery might be the most beneficial treatment.<\/jats:p><\/jats:sec>","DOI":"10.3389\/fonc.2021.683021","type":"journal-article","created":{"date-parts":[[2021,5,24]],"date-time":"2021-05-24T05:20:11Z","timestamp":1621833611000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":12,"title":["Central Nervous System Hemangioblastoma in a Pediatric Patient Associated With Von Hippel-Lindau Disease: A Case Report and Literature Review"],"prefix":"10.3389","volume":"11","author":[{"given":"Bo","family":"Yang","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhenyu","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yubo","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chaoling","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhen","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xianfeng","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2021,5,24]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"69","DOI":"10.1016\/j.critrevonc.2012.10.001","article-title":"Mechanisms, Indications and Results of Salvage Systemic Therapy for Sporadic and Von Hippel-Lindau Related Hemangioblastomas of the Central Nervous System","volume":"86","author":"Capitanio","year":"2013","journal-title":"Crit Rev Oncol Hematol"},{"key":"B2","doi-asserted-by":"publisher","first-page":"18","DOI":"10.1016\/j.wneu.2019.05.175","article-title":"Dural-Based Frontal Lobe Hemangioblastoma","volume":"129","author":"Vicente Lacerda","year":"2019","journal-title":"World Neurosurg"},{"key":"B3","doi-asserted-by":"publisher","DOI":"10.1002\/ana.10107","article-title":"Childhood Cerebellar Hemangioblastoma Does Not Predict Germline or Somatic Mutations in the Von Hippel-Lindau Tumor Suppressor Gene","volume":"51","author":"Fisher","year":"2002","journal-title":"Ann Neurol"},{"key":"B4","doi-asserted-by":"publisher","DOI":"10.1007\/s00701-017-3275-0","article-title":"Pediatric Central Nervous System Hemangioblastomas: Different From Adult Forms? 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