The company has also partnered with the Children's Tumor Foundation to generate real world evidence from NF patient medical records across all forms of neurofibromatosis, including NF1, NF2 and
schwannomatosis.
Rates of loss of heterozygosity and mitotic recombination in NF2 schwannomas, sporadic vestibular schwannomas and
schwannomatosis schwannomas.
Schwannomas usually arise spontaneously although schwannomas are a principal feature of two hereditary tumor diseases, neurofibromatosis type 2 and
schwannomatosis (16).
Neurofibromatosis includes three types: neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2), and
schwannomatosis (NIH, 1997).
Epithelioid malignant peripheral nerve sheath tumor arising in a schwannoma, in a patient with "neuroblastoma-like"
schwannomatosis and a novel germline SMARCB1 mutation.
When multiple schwannomas are present without any other stigmata of neurofibromatosis, then it can be defined as
schwannomatosis. (8)
Walsh, "Neurofibromatosis: A Review of NF1, NF2, and
Schwannomatosis," Journal of Pediatric Genetics, vol.
Multiple occurrences are usually associated not only with neurofibromatosis II but also
schwannomatosis [4, 5].
Plexiform schwannoma usually presents as an isolated finding, and although it is unassociated with NF1, it may occur in the setting of NF2 and
schwannomatosis [3, 6-10].
More recently, somatic mutations with loss of heterozygosity in LZTR1 and germline loss-of-function variants in LZTR1 were respectively associated with glioblastoma multiforme [14] and
schwannomatosis [15,16].