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.
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Epithelioid malignant peripheral nerve sheath tumor arising in a schwannoma, in a patient with "neuroblastoma-like" schwannomatosis and a novel germline SMARCB1 mutation.
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].
Schwannomas can be isolated sporadic lesions or associated with genetic syndromes such as schwannomatosis or neurofibromatosis (2,3).
In Schwannomatosis (neurilemmomatosis), multiple non-vestibular Schwannomas are observed with no other stigmatas of NF type 1 or NF type 2.
Neurofibromatosis (NF) is a group of rare genetic disorder of neural crest derived cells designated as neurofibromatosis type 1 (NF 1), neurofibromatosis type 2 and schwannomatosis.
Another rarest variety of neurofibromatosis is Schwannomatosis characterized by intense pain.
The third one is called, Schwannomatosis that brings extreme pain.
Furthermore, there were no clinical stigmas or family history related to neurofibromatosis or schwannomatosis.
Multiple schwannomas are characteristic of Schwannomatosis (Neurofibromatosis 2).
Kaydie MacKay, from Woodchurch, was diagnosed with schwannomatosis in May, six years after doctors first found a tumour on her arm.