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

Read more

Summary

Introduction

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.

Results
Conclusion
Full Text
Paper version not known

Talk to us

Join us for a 30 min session where you can share your feedback and ask us any queries you have

Schedule a call

Disclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.