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Genetic and Functional Heterogeneity of Tumors in Neurofibromatosis 2

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Technical Report,15 Apr 2013,14 Apr 2016

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Massachusetts General Hospital Boston United States

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The intent of this project was to integrate whole exome genetic and global expression data to identify genes that contribute to the formation, progression and heterogeneity of NF2-associated tumors. We first prepared and submitted for exome sequencing 126 samples representing paired human tumor meningioma or schwannoma and normal DNAs from the same individuals. We also prepared RNA from the same tumors for transcriptome sequencing. We then complemented these datasets with RNA expression data from of a panel of isogenic arachnoidal cell lines either heterozygous or homozygous for inactivating NF2 mutation to define the primary effects of merlin loss in this cell type, which gives rise to meningiomas. Our analyses indicate that secondary mutations in meningiomas occur primarily as large chromosomal structural variations rather than point mutations, in contrast with schwannomas where tentative second-hit somatic alteration of particular genes was noted. Our expression studies also implicate several genes as potential targets for therapeutic approaches for meningioma.

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