Abstract
BackgroundHemangioblastoma 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.Case DescriptionA 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>T) heterozygous missense mutations in the VHL gene.ConclusionThis 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.
Highlights
Hemangioblastoma (HGB) of the central nervous system (CNS) is a rare indolent vascular tumor characterized as a benign, slowgrowing, non-metastasizing neoplasm, representing 2% of cranial tumors [1, 2]
Optic nerve HGBs are exceedingly rare tumors associated with von HippelLindau (VHL) disease
The genotype-phenotype correlation of VHL disease can be classified into truncating mutations and missense mutations, which may play an important role in predicting tumor penetrance and survival
Summary
Hemangioblastoma (HGB) of the central nervous system (CNS) is a rare indolent vascular tumor characterized as a benign, slowgrowing, non-metastasizing neoplasm, representing 2% of cranial tumors [1, 2]. VHL disease is a rare autosomal dominantly inherited cancer syndrome It is associated with a mutation in the VHL tumor suppressor gene, which is located on chromosome band 3p25-26 [10, 11]. The risk of VHL disease in patients with CNS HGBs is negatively correlated with patient age [13], illustrating the importance of genetic testing in pediatric patients with HGBs. Hemangioblastoma is a benign tumor of the central nervous system and may appear as a component of von Hippel-Lindau (VHL) disease. VHL disease is a rare autosomal-dominant inherited cancer syndrome with different phenotypes caused by variants in the VHL gene. The authors describe a case of a pediatric patient with VHL disease and with optic nerve HGB, a rare phenotypic expression. Genetic analyses showed p.Pro86Leu (c. 257C>T) heterozygous missense mutations in the VHL gene
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