Neurofibromatosis 2

Neurofibromatosis 2 (NF2) affects about 1 in 30-40,000 people; patients develop tumours throughout their body and must cope with a variety of neurological problems. Manchester is designated as one of four national centres for the treatment of NF2. The service has demonstrated the benefits of VEGF-inhibitors as a novel treatment for vestibular and spinal schwannomas.

Recent evidence has shown the efficacy of treating NF2 with Bevacizumab (Avastin); 70% of vestibular schwannomas stabilised or regressed whilst on treatment and a significant number of patients showed improvement in their hearing threshold. Manchester researchers investigated early treatment with Avastin and found the majority showed reduction or control in the size of the tumours on scan, and efficacy in spinal schwannomas with neurological resolution and great improvement in pain control.

Manchester recently sequenced the exomes of three unrelated individuals with familial multiple spinal meningiomas, without NF2 mutations. Two individuals were identified with heterozygous loss-of-function mutations in the gene SMARC E1. Sequencing of this gene in six further individuals with spinal meningiomas identified two additional heterozygous loss-of-function mutations. The findings identify multiple-spinal-meningioma disease as a new discrete entity and establish a key role for the SWI/SNF complex in the pathogenesis of both meningiomas and tumours with clear-cell histology.

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Willink Biochemical Genetics User Survey 2015

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