Journal of Medical Genetics · 2005 · 80 citations · 22 references
MedicineGeneticsOncologyHuman GeneticsNeurogeneticsNeuropathologyBrain TumorsGenetic DisordersHereditary Cancer SyndromesNeuro-oncologic PathologyNeurogenetic DisordersVestibular SchwannomaAdult CasesMeningioma PathologyNeurofibromatosis Type 2-Associated TumorsNeurofibromatosis-associated TumorsNon-contributing FeaturesPediatric MeningiomaVestibular Schwannoma Screening
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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A Clinical Study of Type 2 Neurofibromatosis
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