Department of Diagnostic Pathology, Kobe University Graduate School of Medicine, 7-5-2, Kusunoki-cho, Chuo-ku, Kobe, 6500017, Japan.
Brain Tumor Pathol. 2015 Apr;32(2):145-50. doi: 10.1007/s10014-014-0193-1. Epub 2014 Jun 1.
We present an unusual case of cerebellar hemangioblastoma characterized by rhabdoid features. The patient was a 35-year-old Japanese man with occipital neuralgia and exacerbating blurred vision. Magnetic resonance imaging revealed a left posterior cranial fossa tumor, which was isointense on T1-weighted images and hyperintense on T2-weighted images with marked homogeneous enhancement. Histology of the surgically resected tumor showed cellular-type hemangioblastoma with extensive proliferation of rhabdoid cells Immunohistochemistry analysis showed tumor cells positive for inhibin A, CD56, vimentin, INI-1, and vascular endothelial growth factor; negative for PAX8, CD10, epithelial membrane antigen, cytokeratin, (AE1/3), alpha-smooth muscle actin and D2-40; and had focal positivity for glial fibrillary acidic protein and S100. The Ki-67 labeling index was <1 %. Ultrastructural analysis revealed large lipid droplets and abundant intracellular accumulation of intermediate filaments. Based on these findings, the diagnosis was hemangioblastoma with focal rhabdoid features. After a 14-month follow-up, there was no evidence of recurrence. This is the first report of hemangioblastoma with rhabdoid features in the central nervous system. In addition, we discuss the possible pathogenesis.
我们报告了一例小脑血管母细胞瘤伴横纹肌样特征的不典型病例。患者为 35 岁日本男性，表现为枕部神经痛和视力逐渐模糊加重。磁共振成像显示左后颅窝肿瘤，T1 加权像呈等信号，T2 加权像呈高信号，均匀明显强化。手术切除的肿瘤组织学表现为细胞型血管母细胞瘤，横纹肌样细胞广泛增生。免疫组化分析显示肿瘤细胞表达抑制素 A、CD56、波形蛋白、INI-1 和血管内皮生长因子；不表达 PAX8、CD10、上皮膜抗原、细胞角蛋白、AE1/3、α-平滑肌肌动蛋白和 D2-40；胶质纤维酸性蛋白和 S100 局灶阳性。Ki-67 标记指数<1%。超微结构分析显示大的脂滴和丰富的细胞内中间丝积聚。基于这些发现，诊断为伴局灶性横纹肌样特征的血管母细胞瘤。14 个月的随访无复发证据。这是首例中枢神经系统伴横纹肌样特征的血管母细胞瘤报告。此外，我们还讨论了可能的发病机制。
