title: A case of cerebellar hemangioblastoma with rhabdoid features.
abstract: 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.
authors.affiliation: Department of Diagnostic Pathology, Kobe University Graduate School of Medicine, 7-5-2, Kusunoki-cho, Chuo-ku, Kobe, 6500017, Japan.
authors.forename: Ayako
authors.initials: A
authors.lastname: Tomono
authors.forename: Shigeo
authors.initials: S
authors.lastname: Hara
authors.forename: Takanori
authors.initials: T
authors.lastname: Hirose
authors.forename: Tomoo
authors.initials: T
authors.lastname: Itoh
mesh_terms: D000328:Adult; D014408:Biomarkers, Tumor / Q000032:analysis; D019002:CD56 Antigen / Q000032:analysis; D002471:Cell Transformation, Neoplastic / Q000473:pathology; D002528:Cerebellar Neoplasms / Q000175:diagnosis / Q000473:pathology* / Q000601:surgery; D002868:Chromosomal Proteins, Non-Histone / Q000032:analysis; D004268:DNA-Binding Proteins / Q000032:analysis; D038524:Diffusion Magnetic Resonance Imaging; D018325:Hemangioblastoma / Q000175:diagnosis / Q000473:pathology* / Q000601:surgery; D006801:Humans; D007150:Immunohistochemistry; D007265:Inhibins / Q000032:analysis; D008297:Male; D009378:Neoplasms, Multiple Primary; D018335:Rhabdoid Tumor / Q000175:diagnosis / Q000473:pathology* / Q000601:surgery; D000071796:SMARCB1 Protein; D014157:Transcription Factors / Q000032:analysis; D042461:Vascular Endothelial Growth Factor A / Q000032:analysis; D014746:Vimentin / Q000032:analysis
chemical_list: D014408:Biomarkers, Tumor; D019002:CD56 Antigen; D002868:Chromosomal Proteins, Non-Histone; D004268:DNA-Binding Proteins; C522918:NCAM1 protein, human; D000071796:SMARCB1 Protein; C513266:SMARCB1 protein, human; D014157:Transcription Factors; C467484:VEGFA protein, human; D042461:Vascular Endothelial Growth Factor A; D014746:Vimentin; C422362:inhibin A; D007265:Inhibins