Analysis of the neurofibromatosis type 2 gene in different human tumors of neuroectodermal origin

Lucia Rosaria De Vitis, Andrea Tedde, Francesca Vitelli, Franco Ammannati, Pasquale Mennonna, Paolo Bono, Barbara Grammatico, Paola Grammatico, Paolo Radice, Umberto Bigozzi, Enrico Montali, Laura Papi

Research output: Contribution to journalArticlepeer-review


The autosomal dominant syndrome neurofibromatosis type 2 (NF2) is characterized by the development of bilateral vestibular schwannomas, meningiomas, ependymomas and gliomas. The NF2 gene, recently isolated from chromosome 22, is mutated in both sporadic and NF2 tumors such as schwannomas, meningiomas and ependymomas. Mutations of the gene have been described not only in the neoplasms usually associated with NF2, but also in 30% of the melanomas and 41% of the mesotheliomas analyzed. In particular, the finding of mutations in melanomas supports the hypothesis that the NF2 gene is involved in the genesis of several tumor types that arise from the embryonic neural crest. In this study we examined, by single-strand conformation polymorphism (SSCP) analysis, 41 tumors of the central nervous system (11 schwannomas and 30 gliomas), 19 melanomas and 15 Merkel cell carcinoma specimens for mutations in the coding sequence of the NF2 gene. We found three inactivating mutations of the NF2 gene in schwannomas. No alterations of the gene were detected by SSCP analysis of the other tumors. These results confirm the role of NF2 in pathogenesis of schwannomas, but do not define its significance in the genesis of the other neuroectodermal tumors studied.

Original languageEnglish
Pages (from-to)638-641
Number of pages4
JournalHuman Genetics
Issue number5
Publication statusPublished - May 1996

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics


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