Sporadic vestibular schwannoma: a molecular testing summary.
作者： Katherine V Sadler , Naomi L Bowers , Claire Hartley , Philip T Smith , Simon Tobi
DOI: 10.1136/JMEDGENET-2020-107022
关键词: Oncology 、 Internal medicine 、 Medicine 、 Schwannoma 、 Neurofibromatosis type 2 、 SMARCB1 、 Neurology 、 Germline 、 Neurosurgery 、 Genetic testing 、 Schwannomatosis
摘要: Objectives Cases of sporadic vestibular schwannoma (sVS) have a low rate association with germline pathogenic variants. However, some individuals sVS can represent undetected cases neurofibromatosis type 2 (NF2) or schwannomatosis. Earlier identification patients these syndromes facilitate more accurate familial risk prediction and prognosis. Methods were ascertained from local register at the Manchester Centre for Genomic Medicine. Genetic analysis was conducted in NF2 on blood samples all patients, tumour DNA when available. LZTR1 SMARCB1 screening also performed patient subgroups. Results Age genetic testing (VS) presentation younger comparison previous literature, bias resulting updated recommendations. Mosaic constitutional variants confirmed 2% patients. Pathogenic found 3% tested higher 5% Conclusions Undiagnosed predisposition may account significant minority apparently cases, especially lower ages. Loss function is common event VS tumours targetable pathway tumourigenesis. These data support multi-hit mechanism LZTR1-associated
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