• Irene Szijan, Daniel Rochefort, Carl Bruder, Ezequiel Surace, Gloria Machiavelli, Viviana Dalamon, Javier Cotignola, Veronica Ferreiro, Alvaro Campero, Armando Basso, Jan P Dumanski, and Guy A Rouleau.
• Genetica y Biologia Molecular, Facultad de Farmacia y Bioquimica y Hospital de Clinicas, Universitdad de Buenos Aires, Junin 956, 1113 Buenos Aires, Argentina. iszijan@arnet.com.ar
• Neuromolecular Med. 2003 Jan 1;3(1):41-52.

AbstractThe NF2 tumor suppressor gene, located in chromosome 22q12, is involved in the development of multiple tumors of the nervous system, either associated with neurofibromatosis 2 or sporadic ones, mainly schwannomas and meningiomas. In order to evaluate the role of the NF2 gene in sporadic central nervous system (CNS) tumors, we analyzed NF2 mutations in 26 specimens: 14 meningiomas, 4 schwannomas, 4 metastases, and 4 other histopathological types of neoplasms. Denaturing high performance liquid chromatography (denaturing HPLC) and comparative genomic hybridization on a DNA microarray (microarray- CGH) were used as scanning methods for small mutations and gross rearrangements respectively. Small mutations were identified in six out of seventeen meningiomas and schwannomas, one mutation was novel. Large deletions were detected in six meningiomas. All mutations were predicted to result in truncated protein or in the absence of a large protein domain. No NF2 mutations were found in other histopathological types of CNS tumors. These results provide additional evidence that mutations in the NF2 gene play an important role in the development of sporadic meningiomas and schwannomas. Denaturing HPLC analysis of small mutations and microarray-CGH of large deletions are complementary, fast, and efficient methods for the detection of mutations in tumor tissues.

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