Dissemination of histologically benign hemangioblastoma is rare; approximately 30 cases have previously been reported, and all cases occurred several months to years after surgical resection. Herein, we report a case of hemangioblastoma in which leptomeningeal dissemination occurred 2 years after hypofractionated radiation therapy (39 Gy/13 fractions). The tumor was treated primarily with radiation without surgical resection. Biopsy of the disseminated lesion confirmed histological diagnosis as histologically benign hemangioblastoma. Ki67 index was not remarkably elevated for hemangioblastomas. In addition, the methylation class determined by the methylation profiling classifier developed by the German Cancer Research Center (DKFZ)/University Hospital Heidelberg/German Consortium for Translational Cancer Research was consistent with that of common hemangioblastomas. However, genetic analyses showed significant gains and losses throughout the whole genome, indicating that highly aberrant copy number profiles may be the key to elucidating this rare but life-threatening clinical entity. Accumulation of more detailed case reports based on the comparison of specimens obtained before and after surgery or radiation is necessary to better understand the pathophysiology of the dissemination phenotype of hemangioblastoma.

组织学上良性血管母细胞瘤的传播很少。先前已报道约30例，所有病例均在手术切除后数月至数年发生。在此，我们报告了一例成血管母细胞瘤，其中在次分割放疗（39 Gy / 13分数）后2年发生了软脑膜播散。肿瘤主要通过放射治疗，无需手术切除。弥散性病变的活检证实组织学诊断为组织学上良性血管母细胞瘤。对于血管母细胞瘤，Ki67指数并未显着升高。此外，由德国癌症研究中心（DKFZ）/海德堡大学/德国转化癌症研究联合会开发的甲基化分布分类器确定的甲基化类别与常见的成血管母细胞瘤一致。但是，遗传分析显示整个基因组都有明显的得失，这表明高度异常的拷贝数特征可能是阐明这种罕见但威胁生命的临床实体的关键。为了更好地了解成血管母细胞瘤扩散表型的病理生理，有必要根据手术或放疗前后获得的标本的比较积累更详细的病例报告。表明高度异常的拷贝数特征可能是阐明这种罕见但危及生命的临床实体的关键。为了更好地了解成血管母细胞瘤扩散表型的病理生理，有必要根据手术或放疗前后获得的标本的比较积累更详细的病例报告。表明高度异常的拷贝数特征可能是阐明这种罕见但危及生命的临床实体的关键。为了更好地了解成血管母细胞瘤扩散表型的病理生理，有必要根据手术或放疗前后获得的标本的比较积累更详细的病例报告。