Divergence in intra-tumor variant frequencies in sporadic vestibular schwannomas as a potential indication for mosaic NF2-related schwannomatosis?

Abstract excerpt

Vestibular schwannomas (VSs) are benign tumors of the eighth cranial nerve and the hallmark of NF2-related schwannomatosis. However, the majority of these tumors occur sporadically, arising from two inactivating alterations of the NF2 gene. In this study, we re-evaluated a total of 29 VSs, each harboring two intragenic pathogenic NF2 variants. In the six NF2-associated VSs, the intra-tumor variant frequencies...

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