ArticleBMC medical genetics2013
Association between mutation of the NF2 gene and monosomy 22 in menopausal women with sporadic meningiomas.
Article in BMC medical genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 21 citations in OpenAlex.
- Article
- Domestic Animal Models of Central Nervous System Tumors: Focus on Meningiomas.Life (Basel, Switzerland) · 2023Review
- Whole-Exome Sequencing Reveals Recurrent but Heterogeneous Mutational Profiles in Sporadic WHO Grade 1 Meningiomas.Frontiers in oncology · 2021Article
- Companion animal models of neurological disease.Journal of neuroscience methods · 2020Review
- Meningiomas: An Overview of the Landscape of Copy Number Alterations in Samples from an Admixed Population.Journal of oncology · 2020Article
- Emerging Medical Treatments for Meningioma in the Molecular Era.Biomedicines · 2018Review
- Relationships Between Neurofibromatosis-2, Progesterone Receptor Expression, the Use of Exogenous Progesterone, and Risk of Orbitocranial Meningioma in Females.Frontiers in oncology · 2018Article
- Molecular Genetics of Intracranial Meningiomas with Emphasis on Canonical Wnt Signalling.Cancers · 2016Review
- 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
- Review
- Using the neurofibromatosis tumor predisposition syndromes to understand normal nervous system development.Scientifica · 2014Review
- Molecular Targets and Treatment of Meningioma.Journal of neurology and neurosurgery · 2014Article
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Authors and funding
9 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundMeningioma was the first solid tumor shown to contain a recurrent genetic alteration e.g. monosomy 22/del(22q), NF2 being the most relevant gene involved. Although monosomy 22/del(22q) is present in half of all meningiomas, and meningiomas frequently carry NF2 mutations, no study has been reported so far in which both alterations are simultaneously assessed and correlated with the features of the disease.
methodsHere, we analyzed the frequency of both copy number changes involving chromosome 22 and NF2 mutations in 20 sporadic meningiomas using high-density SNP-arrays, interphase-FISH and PCR techniques.
resultsOur results show a significant frequency of NF2 mutations (6/20 patients, 30%), most of which (5/6) had not been previously reported in sporadic meningiomas. NF2 mutations involved five different exons and led to a truncated protein (p.Leu163CysfsX46, p.Phe62LeufsX61, p.Asp281MetfsX15, p.Phe285LeufsX11, p.Gln389ArgfsX37) and an in frame deletion of Phe119. Interestingly, all NF2 mutated cases were menopausal women with monosomy 22 but not del(22q).
conclusionsThese results confirm and extend on previous observations about the high frequency and heterogeneity of NF2 mutations in sporadic meningiomas and indicate they could be restricted to a well-defined cytogenetic and clinical subgroup of menopausal women. Further studies in large series of patients are required to confirm our observations.
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