Abstract
Six pediatric patients with cerebellar hemangioblastoma were screened for germline or somatic mutations of the von Hippel-Landau gene, in a study at Stanford University Medical Center, Palo Alto, CA.
Highlights
Six pediatric patients with cerebellar hemangioblastoma were screened for germline or somatic mutations of the von Hippel-Landau gene, in a study at Stanford University Medical Center, Palo Alto, CA
Two testing positive for mutations had a history of clinical manifestations of von Hippel-Lindau disease, whereas 4 testing negative had solitary hemangioblastoma and no history of the disease
The apparent absence of von Hippel-Lindau (VHL) gene abnormalities in childhood sporadic cerebellar hemangioblastoma indicates an alternative mechanism of tumorigenesis from that in adults
Summary
Six pediatric patients with cerebellar hemangioblastoma were screened for germline or somatic mutations of the von Hippel-Landau gene, in a study at Stanford University Medical Center, Palo Alto, CA. The diagnosis of Langerhans' cell histiocytosis (LCH) is made by the electron micrograph finding of Birbeck granules, membranous cytoplasmic structures, 200-400 nm in width and shaped like tennis rackets, and CD la and S100 protein antigen on the cell surface The presentation is usually as bone lesions and dermatitis, hepatosplenomegaly, lymphadenopathy, pancytopenia, fever, and weight loss.
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