Genetic and epigenetic alteration of the NF2 gene in sporadic meningiomas

摘要: The role of the NF2 gene in development meningiomas has recently been documented; inactivating mutations plus allelic loss at 22q, site this (at 22q12), have identified both sporadic and neurofibromatosis type 2-associated tumors. Although epigenetic inactivation through aberrant CpG island methylation 5' flanking region documented schwannoma (another NF2-associated neoplasm), data on participation modification are not yet widely available. Using methylation-specific PCR (MSP) sequencing, we assessed presence promoter a series 88 (61 grade I, 24 II, 3 III), which constitution 22q mutational status also were determined by RFLP/microsatellite PCR-SSCP analyses. Chromosome 22 loss, mutation, detected 49%, 24%, 26% cases, respectively. Aberrant with heterozygosity (LOH) was found five mutation another; LOH 16 samples. sole alteration 15 samples, most from I These results indicate that hypermethylation may participate significant proportion meningiomas, primarily those I.