title: Alterations of microsatellites in neurofibromas of von Recklinghausen's disease.
abstract: von Recklinghausen's disease, or type I neurofibromatosis, a common familial tumor syndrome, is characterized by the occurrence of multiple benign neoplasms of nerve sheath cells. The disease is caused by germ-line mutations of the NF1 gene, which encodes a member of the GTPase-activating superfamily of Ras regulatory proteins. We analyzed 5 dinucleotide repeat loci in DNAs from neurofibromas and matched normal skin from 16 NF1 patients. Eight cases (50%) manifested microsatellite alterations. Expansions or compressions of dinucleotide repeats were observed at one locus in four cases and at two loci in one case. Banding patterns compatible with the loss of a microsatellite allele were observed in four cases, including one that also presented microsatellite instability. The surprisingly high frequency of microsatellite alterations suggests that the NF1 gene or another gene(s) contributing to the pathogenesis of neurofibromas might be directly or indirectly implicated in the control of genomic integrity.
authors.affiliation: Department of Experimental Medicine, University La Sapienza, Rome, Italy.
authors.forename: L
authors.initials: L
authors.lastname: Ottini
authors.forename: D L
authors.initials: DL
authors.lastname: Esposito
authors.forename: A
authors.initials: A
authors.lastname: Richetta
authors.forename: M
authors.initials: M
authors.lastname: Carlesimo
authors.forename: R
authors.initials: R
authors.lastname: Palmirotta
authors.forename: M C
authors.initials: MC
authors.lastname: Verí
authors.forename: P
authors.initials: P
authors.lastname: Battista
authors.forename: L
authors.initials: L
authors.lastname: Frati
authors.forename: F G
authors.initials: FG
authors.lastname: Caramia
authors.forename: S
authors.initials: S
authors.lastname: Calvieri
mesh_terms: D000328:Adult; D000368:Aged; D002872:Chromosome Deletion; D004273:DNA, Neoplasm / Q000235:genetics*; D004276:DNA, Satellite / Q000235:genetics*; D005260:Female; D016514:Genes, Neurofibromatosis 1 / Q000235:genetics; D005819:Genetic Markers; D006801:Humans; D008297:Male; D008875:Middle Aged; D009456:Neurofibromatosis 1 / Q000235:genetics*; D012878:Skin Neoplasms / Q000235:genetics*
chemical_list: D004273:DNA, Neoplasm; D004276:DNA, Satellite; D005819:Genetic Markers