The Role of Cumulative Genetic Defects in NF1 Tumorigenesis

Abstract

This project studied the genetic basis of tumor pathogenesis in neurofibromatosis 1 (NF1). This work tested the two-hit hypothesis in NF1 tumors (neurofibromas and MPNSTs), and involvement of other loci such as TP53. Human tumor samples were collected, with development of cell cultures from some. Discoveries: the two-hit mechanism operates in at least a large proportion of neurofibromas (which may include methylation as a mechanism); there is a genetically abnormal clonal Schwann cell component in these tumors; somatic isodisomy may be present in loss of heterozygosity cases; the TP53 gene (and RB1 and P73) is implicated only in MPNSTs; and the ErbB2 gene may be a modifier of NF1.

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Document Details

Document Type
Technical Report
Publication Date
Oct 01, 2002
Accession Number
ADA412154

Entities

People

  • Margaret R. Wallace

Organizations

  • University of Florida

Tags

Communities of Interest

  • Advanced Electronics

DTIC Thesaurus Topics

  • Cell Physiological Processes
  • Cells
  • Chemical Synthesis
  • Chemistry
  • Culture Techniques
  • Genetic Variation
  • Genetics
  • Health Services
  • Medical Personnel
  • Neuromuscular Diseases
  • Peptides
  • Peripheral Nervous System

Fields of Study

  • Biology

Readers

  • Molecular Biology and Genetics
  • Molecular and Cellular Biology
  • Molecular and genetic basis of cancer.

Technology Areas

  • Biotechnology