NF2-related schwannomatosis and other schwannomatosis: an updated genetic and epidemiological study

Schwannomatosis is a rare tumour predisposition condition. Using a large UK-wide database we have studied the epidemiology of both NF2 and other genetic (LZTR1 and SMARCB1-related) schwannomatoses.  We confirm an evenly distributed prevalence of 1 in 58,000 for NF2.  A high proportion of cases (72% in England) are de novo (present new in an individual). This is higher than previous reports. LZTR1 and SMARCB1-related schwannomatosis are much rarer (approximately one in half a million and 1 in a million respectively). Knowledge of the genetic aetiology and disease prevalence of schwannomatosis is important for counselling and planning patient services. (By Professor D Gareth Evans, https://jmg.bmj.com/content/early/2024/06/25/jmg-2024-110065 )

Tim Lavin, Claire Forde, D Gareth Evans

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