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Background  Meningioma 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.    Methods  Here, 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.    Results  Our 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).    Conclusions  These 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.

Association between mutation of the NF2gene and monosomy 22 in menopausal women with sporadic meningiomas