title: Evaluation of NF2 gene deletion in pediatric meningiomas using chromogenic in situ hybridization.
abstract: Meningiomas are uncommon childhood tumors. They could be of significant size at presentation, which has been associated with difficult surgical excision, high recurrence rate, and possibly aggressive clinical behavior. Monosomy 22 is a common molecular event in this neoplasm. Additionally, losses on chromosomes 1,7,10, and 14 have been identified in clinically aggressive meningiomas. Using chromogenic in situ hybridization, we studied a group of pediatric meningiomas, including neurofibromatosis type II-associated, sporadic, and radiation-induced cases. We found NF2 gene deletion in about 72% of the cases, with corresponding absent or minimal merlin protein expression by immunohistochemistry. Our findings confirm that the NF2 gene plays a role in the tumorigenesis of pediatric meningiomas and that chromogenic in situ hybridization is an efficient, economic, and reliable method for routinely assessing NF2 gene deletion in formalin-fixed, paraffin-embedded tissues.
authors.affiliation: Laboratory of Pathology, Surgical Pathology Section, National Cancer Institute, NIH, Bethesda, Maryland, USA.
authors.forename: Maria D
authors.initials: MD
authors.lastname: Begnami
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: D000293:Adolescent; D014408:Biomarkers, Tumor / Q000378:metabolism; D002648:Child; D002863:Chromogenic Compounds; D017353:Gene Deletion; D016515:Genes, Neurofibromatosis 2; D006801:Humans; D007124:Immunoenzyme Techniques; D017403:In Situ Hybridization / Q000379:methods*; D008577:Meningeal Neoplasms / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D008579:Meningioma / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D025581:Neurofibromin 2 / Q000378:metabolism
chemical_list: D014408:Biomarkers, Tumor; D002863:Chromogenic Compounds; D025581:Neurofibromin 2