Alterations of microsatellites in neurofibromas of von Recklinghausen's disease

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 super...

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Bibliographic Details
Published inCancer research (Chicago, Ill.) Vol. 55; no. 23; pp. 5677 - 5680
Main Authors OTTINI, L, ESPOSITO, D. L, CAMA, A, MARIANI-COSTANTINI, R, RICHETTA, A, CARLESIMO, M, PALMIROTTA, R, VERI, M. C, BATTISTA, P, FRATI, L, CARAMIA, F. G, CALVIERI, S
Format Journal Article
LanguageEnglish
Published Philadelphia, PA American Association for Cancer Research 01.12.1995
Subjects
Adult
Aged
Biological and medical sciences
Chromosome Deletion
DNA, Neoplasm - genetics
DNA, Satellite - genetics
Female
Genes, Neurofibromatosis 1 - genetics
Genetic Markers
Humans
Male
Medical sciences
Middle Aged
Neurofibromatosis 1 - genetics
Neurology
Skin Neoplasms - genetics
Tumors of the nervous system. Phacomatoses
Human
Tissue
Skin disease
Nervous system diseases
Phacomatosis
Pathogenesis
Microsatellite DNA
Instability
Benign neoplasm
Mutation
Neurofibromatosis Recklinghausen
Genetic disease
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Summary: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.
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ISSN:0008-5472
1538-7445