Genetic Evaluation of Peripheral Nerve Sheath Tumors in Neurofibromatosis Type I
Annual rept. 1 Oct 1999-30 Sep 2000
UTAH UNIV SALT LAKE CITY
Pagination or Media Count:
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 239 markers. There was evidence of allelic imbalance and loss of hetemzygosity LOH in 439 markers from 2 sites in 1 benign PNST. The other benign PNST showed changes in 2239 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.
- Medicine and Medical Research