Establishment and characterization of a schwannoma cell line from a patient with neurofibromatosis 2

Int J Oncol. 2002 Mar;20(3):475-82.

Abstract

By using retroviral mediated gene transfer technique, a primary schwannoma culture from a 56-year-old Neurofibromatosis type 2 (NF2) patient was immortalized with HPV E6-E7 genes. This cell line, HEI193, has a unique splice site mutation of the NF2 gene. Both immunocytochemistry and molecular biology techniques were used to demonstrate that this cell line is of Schwann cell origin. Comparison of the primary tumor with HEI193 revealed the same NF2 mutation and an identical pattern of allele loss at multiple loci, indicating that the established cell line had maintained many of the properties of the original tumor. The immortalized cell line was non-tumorigenic in both severe combined immunodeficient (SCID) mice and nude mice, but has altered growth properties such as higher proliferation rate and independence of Schwann cell growth factors. To our knowledge, this is the first attempt to establish permanent cell lines from human NF2 patients. This Schwann tumor-derived cell line may provide a useful model system for the study of familial NF2 tumor pathogenesis, for elucidating NF2 functions and for testing new gene-based therapeutic approaches.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, Non-P.H.S.

MeSH terms

  • Alleles
  • Animals
  • Cell Culture Techniques / methods*
  • Cell Division
  • Cell Line
  • Disease Models, Animal
  • Head and Neck Neoplasms / genetics
  • Head and Neck Neoplasms / metabolism*
  • Humans
  • Immunohistochemistry
  • Karyotyping
  • Loss of Heterozygosity
  • Male
  • Mice
  • Mice, Nude
  • Mice, SCID
  • Middle Aged
  • Mutation
  • Neurilemmoma / genetics
  • Neurilemmoma / metabolism*
  • Neurofibromatosis 2 / genetics
  • Neurofibromatosis 2 / metabolism*
  • Reverse Transcriptase Polymerase Chain Reaction
  • Sequence Analysis, DNA
  • Tumor Cells, Cultured