title: Allelic loss at the neurofibromatosis type 1 (NF1) gene locus is frequent in desmoplastic neurotropic melanoma.
abstract: Mutations of the tumour-suppressor gene NF1 (neurofibromatosis 1) have been observed in neurofibromas and neurofibrosarcomas of patients with von Recklinghausen's disease and in sporadic nerve sheath tumours. In contrast, melanoma, another tumour type of neuroectodermal origin, rarely shows NF1 alterations. Desmoplastic neurotropic melanoma (DNM) is an uncommon melanoma subtype that shares morphological characteristics with nerve sheath tumours. Therefore, we analysed 15 DNM and 20 melanomas without morphological features of desmoplasia or neuroid differentiation (common melanomas) for loss of heterozygosity (LOH) at the NF1 locus and flanking regions. Allelic loss was detected in 10/15 (67%) DNM but only in 1/20 (5%) common melanomas. LOH was most frequently observed at marker IVS38, located in intron 38 of NF1. These data suggest a role for NF1 in the pathogenesis of DNM and support an earlier hypothesis that exon 37 might encode a functional domain. DNM may represent an interesting tumour model tor the further elucidation of the cellular functions and tumour-suppressive potential of neurofibromin.
authors: Department of Dermatology and Allergology, Hannover Medical University, Germany. rgutzmer@gmx.de
authors: R
authors: R
authors: Gutzmer
authors: R A
authors: RA
authors: Herbst
authors: S
authors: S
authors: Mommert
authors: P
authors: P
authors: Kiehl
authors: F
authors: F
authors: Matiaske
authors: A
authors: A
authors: Rütten
authors: A
authors: A
authors: Kapp
authors: J
authors: J
authors: Weiss
mesh_terms: D000483:Alleles; D014408:Biomarkers, Tumor / Q000235:genetics; D002871:Chromosome Banding; D004273:DNA, Neoplasm / Q000235:genetics; D016514:Genes, Neurofibromatosis 1; D006801:Humans; D019656:Loss of Heterozygosity; D008545:Melanoma / Q000235:genetics*; D011110:Polymorphism, Genetic
chemical_list: D014408:Biomarkers, Tumor; D004273:DNA, Neoplasm