Multiple meningiomas: differential involvement of the NF2 gene in children and adults.

نویسندگان

  • D G R Evans
  • C Watson
  • A King
  • A J Wallace
  • M E Baser
چکیده

OBJECTIVE To screen for NF2 mutations in people with meningiomas. METHODS Lymphocyte or tumour DNA was analysed from 46 individuals from 36 families who presented with a meningioma at age < or =15 years without vestibular schwannoma (VS), or who had multiple meningiomas in adulthood before the diagnosis of VS. RESULTS Eight of 13 people with meningioma and other features of neurofibromatosis 2 (NF2) had an identified constitutional NF2 mutation in blood DNA, but none of the other subjects had identified constitutional NF2 mutations. CONCLUSIONS Constitutional NF2 mutations are the most likely cause of meningioma in children and in people with a meningioma plus other non-VS features of NF2. Mosaic NF2 may be the cause of about 8% of multiple meningiomas in sporadic adult cases, but there are other causes in the majority of other such patients and in multiple meningioma in families.

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عنوان ژورنال:
  • Journal of medical genetics

دوره 42 1  شماره 

صفحات  -

تاریخ انتشار 2005