Alterations of microsatellites in neurofibromas of von Recklinghausen's disease

L. Ottini, D. L. Esposito, A. Richetta, M. Carlesimo, R. Palmirotta, M. C. Veri, P. Battista, L. Frati, F. G. Caramia, S. Calvieri, A. Cama, R. Mariani-Costantini

Research output: Contribution to journalArticlepeer-review


von Recklinghausen's disease, or type 1 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.

Original languageEnglish
Pages (from-to)5677-5680
Number of pages4
JournalCancer Research
Issue number23
Publication statusPublished - 1995

ASJC Scopus subject areas

  • Cancer Research
  • Oncology


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