ArticleHuman genetics1996
Screening for mutations in the neurofibromatosis type 2 (NF2) gene in sporadic meningiomas.
Article in Human genetics, 1996. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
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Who cites it
25 citing papers in PubMed, 78 citations in OpenAlex.
- Effect of lapatinib on meningioma growth in adults with neurofibromatosis type 2.Journal of neuro-oncology · 2018Trial
- Merlin immunohistochemistry is a reliable surrogate marker for NF2 gene alterations in meningioma.Histopathology · 2025Article
- Merlin immunoreactivity fails to predict neurofibromatosis type 2 mutations in human meningiomas.Journal of neuropathology and experimental neurology · 2025Article
- Case report and literature review: exploration of molecular therapeutic targets in recurrent malignant meningioma through comprehensive genetic analysis with Todai OncoPanel.Frontiers in neurology · 2023Article
- A description of familial clustering of meningiomas in the Utah population.Neuro-oncology · 2017Article
- Clinical impact of targeted amplicon sequencing for meningioma as a practical clinical-sequencing system.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2016Article
- Association between mutation of the NF2 gene and monosomy 22 in menopausal women with sporadic meningiomas.BMC medical genetics · 2013Article
- Merlin: a tumour suppressor with functions at the cell cortex and in the nucleus.EMBO reports · 2012Review
- Meningioma of the cerebellopontine angle in identical twins: a case report.Journal of neuro-oncology · 2010Article
- Gene expression profiles of meningiomas are associated with tumor cytogenetics and patient outcome.Brain pathology (Zurich, Switzerland) · 2009Article
- Molecular biology of unreresectable meningiomas: implications for new treatments and review of the literature.Skull base : official journal of North American Skull Base Society ... [et al.] · 2008Article
- Comprehensive genetic and epigenetic analysis of sporadic meningioma for macro-mutations on 22q and micro-mutations within the NF2 locus.BMC genomics · 2007Article
- A genetic strategy to overcome the senescence of primary meningioma cell cultures.Journal of neuro-oncology · 2006Article
- NF2 mutations in secretory and other rare variants of meningiomas.Brain pathology (Zurich, Switzerland) · 2006Article
- Strong conservation of the human NF2 locus based on sequence comparison in five species.Mammalian genome : official journal of the International Mammalian Genome Society · 2003Article
- Molecular characterization of human meningiomas by gene expression profiling using high-density oligonucleotide microarrays.The American journal of pathology · 2002Article
- A role for chromosome 9p21 deletions in the malignant progression of meningiomas and the prognosis of anaplastic meningiomas.Brain pathology (Zurich, Switzerland) · 2002Article
- Fluorescence in situ hybridization (FISH) in diagnostic and investigative neuropathology.Brain pathology (Zurich, Switzerland) · 2002Review
- Allelic loss of 14q and 22q, NF2 mutation, and genetic instability occur independently of c-kit mutation in gastrointestinal stromal tumor.Japanese journal of cancer research : Gann · 2000Article
- Clonal origin of recurrent meningiomas.Brain pathology (Zurich, Switzerland) · 1999Article
Corrections and comments
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Authors and funding
8 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Meningiomas are benign tumors of the central nervous system. They are usually sporadic but can also occur associated with the neurofibromatosis type 2 (NF2) syndrome. The gene responsible for NF2, recently isolated from chromosome 22, encodes a membrane-organizing protein that shows high sequence homology to a protein family thought to link the cytoskeleton with membrane proteins. Mutations of the NF2gene have been described in sporadic meningiomas, exclusively in tumors that show loss of heterozygosity (LOH) of 22q. These preliminary results indicate that the NF2 gene is involved in the pathogenesis of at least a subset of meningiomas, where it does indeed behave as a tumor suppressor gene. In order to characterize better the role of the NF2 gene in the genesis of meningiomas we have examined the entire coding sequence of the gene in 125 meningiomas by single-strand conformational polymorphism analysis; furthermore, LOH analysis for markers of 22q has been carried out. Inactivating mutations were identified in 30% of our samples, all of which also showed LOH of 22q. The majority of mutations identified were frameshifts and nonsense mutations, which are predicted to produce a truncated or nonfunctional protein. We also found two missense and three in-frame deletions that may pinpoint specific regions of the protein critical to its function. Furthermore, the distribution of mutations throughout the gene, suggested that exons 2, 3, 5, 11 and 13 are more frequently involved. Our results reconfirm the importance of the NF2 gene in the pathogenesis of meningiomas and also suggest that there may be a nonrandom clustering of mutations throughout the gene.
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