schwannomatosis


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schwannomatosis

An inherited predisposition to develop benign tumours of the peripheral nerve sheath (OMIM:162091) that usually occur singly in otherwise normal individuals, which is regarded as a clinical entity distinct from other forms of neurofibromatosis.

Molecular pathology
Defects in SMARCB1, which encodes a core component of the ATP-dependent chromatin-remodelling BAF (hSWI/SNF) complex with key roles in cell proliferation and differentiation, cause schwannomatosis.
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.
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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).
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].