Nerve Sheath Tumors: Malignant peripheral nerve sheath tumors, Schwannomas, and Neurofibromas
- Oncogenic signatures responsible for the transformation MPNST include activation of the STAT3/HIF, catenin/Wnt and RHO/ROCK pathways.
- MPNSTs often harbor recurrent inactivation of polycomb repressive complex 2 from somatic mutation of EED and/or SUZ12.
- Genetic analysis revealed germline mutations in SMARCB1 in approximately 50% of individuals affected by familial schwannomatosis.
- Germline mutations in LZTR1 were identified in about 80% of schwannomatosis cases lacking mutations in SMARCB1.