Article
Genetic findings in people with schwannomas who do not meet clinical diagnostic criteria for NF2-related schwannomatosis.
Journal of medical genetics - 23 Oct 2024
Smith Miriam J, Perez-Becerril Cristina, van der Meer Mwee, Burghel George J, Waller Sarah J, Carney Megan, Bunstone Sancha, Fryer Katherine, Bowers Naomi L, Hartley Claire L, Smith Philip T, Rutherford Scott A, Freeman Simon R, Lloyd Simon K W, Pathmanaban Omar N, King Andrew Thomas, Halliday Dorothy, Duff Chris, Evans D Gareth
Abstract excerpt
BACKGROUND: Most schwannomas are isolated tumours occurring in otherwise healthy people. However, bilateral vestibular schwannomas (BVS) or multiple non-vestibular schwannomas indicate an underlying genetic predisposition. This is most commonly NF2-related schwannomatosis (SWN), but when BVS are absent, this can also indicate SMARCB1-related or LZTR1-related SWN. METHODS: We assessed the variant detection rates...
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