title: Evaluation of NF2 gene deletion in sporadic schwannomas, meningiomas, and ependymomas by chromogenic in situ hybridization.
abstract: Fluorescence in situ hybridization, loss of heterozygosity testing, and comparative genomic hybridization have been used to detect NF2 gene alterations in both sporadic and neurofibromatosis type 2 (NF2)-associated central nervous system tumors. In this study, we performed chromogenic in situ hybridization (CISH) and immunohistochemistry to evaluate for NF2 gene deletion in a group of sporadic meningiomas, schwannomas, and ependymomas. Twenty-two sporadic tumors, including 9 ependymomas, 10 meningiomas, and 3 schwannomas, were studied. CISH and immunohistochemistry were performed using the NF2 gene deletion probe and NF2 polyclonal antibody. Deletion of the NF2 gene was identified in 11 (50%) tumors, including 60% (6/10) of meningiomas, 33% (3/9) of ependymomas, and 67% (2/3) of schwannomas. The remaining 11 (50%) cases were diploid. Overall, immunoexpression of NF2 protein was observed in 50% (11/22) tumors, and concordance between CISH and immunohistochemistry was observed in 73% of cases. Our results support previous observations that schwannomas and meningiomas, and to a lesser degree, ependymomas, express a high incidence of NF2 gene deletion, which supports the hypothesis that NF2 gene plays an important role in their tumorigenesis. In addition, we have validated CISH as an efficient, economic, and reliable method for routinely assessing NF2 gene deletion in these tumors.
authors.affiliation: Laboratory of Pathology, Surgical Pathology Section, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892, USA. mariadirlei@gmail.com
authors.forename: Maria D
authors.initials: MD
authors.lastname: Begnami
authors.forename: Mauricio
authors.initials: M
authors.lastname: Palau
authors.forename: Elisabeth J
authors.initials: EJ
authors.lastname: Rushing
authors.forename: Mariarita
authors.initials: M
authors.lastname: Santi
authors.forename: Martha
authors.initials: M
authors.lastname: Quezado
mesh_terms: D020223:Chromosome Painting; D004806:Ependymoma / Q000235:genetics / Q000473:pathology*; D017353:Gene Deletion; D016515:Genes, Neurofibromatosis 2; D006801:Humans; D007150:Immunohistochemistry; D017404:In Situ Hybridization, Fluorescence; D008579:Meningioma / Q000235:genetics / Q000473:pathology*; D009442:Neurilemmoma / Q000235:genetics / Q000473:pathology*; D012017:Referral and Consultation; D015203:Reproducibility of Results; D012189:Retrospective Studies