PDF(Pubmed)
Abstract：
UNASSIGNED: 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.
UNASSIGNED: 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>T) heterozygous missense mutations in the VHL gene.
UNASSIGNED: 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.
UNASSIGNED: 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>T) heterozygous missense mutations in the VHL gene.
UNASSIGNED: 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.
摘要：
■血管母细胞瘤是中枢神经系统的良性肿瘤，可能是vonHippel-Lindau（VHL）疾病的组成部分。目前,文献报道了约40例视神经HGBs。VHL病是一种罕见的常染色体显性遗传癌症综合征，具有由VHL基因变异引起的不同表型。在这里，作者描述了一例患有VHL疾病和视神经HGB的儿科患者，一种罕见的表型表达。本研究的目的是探索基因型-表型，临床特征,小儿VHL相关血管母细胞瘤的治疗和随访。
■一个12岁的男孩出现视力丧失,我们医院的头痛和头晕。磁共振成像（MRI）显示位于鞍上区域的大（19.8mm*18.5mm*23.5mm）不规则肿块。在开颅手术和显微外科治疗后，肿块被成功切除。病理诊断为左视神经HGB。遗传分析显示p.Pro86Leu（c。257C>T)VHL基因中的杂合错义突变。
■这是第一例VHL相关视神经HGB的儿科病例。VHL疾病的基因型-表型相关性可能为预测肿瘤外显率和生存率提供新的依据。大体肿瘤切除联合立体定向放射外科可能是最有益的治疗方法。
■一个12岁的男孩出现视力丧失,我们医院的头痛和头晕。磁共振成像（MRI）显示位于鞍上区域的大（19.8mm*18.5mm*23.5mm）不规则肿块。在开颅手术和显微外科治疗后，肿块被成功切除。病理诊断为左视神经HGB。遗传分析显示p.Pro86Leu（c。257C>T)VHL基因中的杂合错义突变。
■这是第一例VHL相关视神经HGB的儿科病例。VHL疾病的基因型-表型相关性可能为预测肿瘤外显率和生存率提供新的依据。大体肿瘤切除联合立体定向放射外科可能是最有益的治疗方法。
