Genetic Evaluation of Peripheral Nerve Sheath Tumors in Neurofibromatosis Type I
Abstract
The goal of this research project is to identify molecular changes that are associated with the progression of a peripheral nerve sheath tumor (PNST) from benign to malignancy. Archival and prospectively acquired benign PNSTs and malignant PNSTs are collected. and molecular changes at the NF1 locus and throughout the genome are assessed. In preliminary findings archived dermal neurofibromas from 5 patients and 2 benign PNSTs from 2 patients have been analyzed. It was found that the genorne from the dermal neurofibromas is stable, with exceptions of allelic imbalance at 2/39 markers. There was evidence of allelic imbalance and loss of hetemzygosity (LOH) in 4/39 markers from 2 sites in 1 benign PNST. The other benign PNST showed changes in 22/39 markers including LOH at the NF locus. In contrast. no somatic inactivating deletions of the NFl gene were identified in the 38 dermal neurofibromas. Preliminary microarray expression data has been obtained prior to the beginning of this study for changes in gene expression between malignant and benign PNSTs. As part of this study, two sets of data were compared and a set of candidate genes with altered expression have been identified but not validated. Finally techniques for genotyping from microdissected tumor sections have been developed for use on MPNSTs when collected prospectively.
Document Details
- Document Type
- Technical Report
- Publication Date
- Oct 01, 2000
- Accession Number
- ADA394416
Entities
People
- David Viskochil
Organizations
- University of Utah