Practical Genetics

European Journal of Human Genetics (2007) 15, 131–138. doi:10.1038/sj.ejhg.5201676; published online 6 September 2006

Neurofibromatosis 1

Rosalie E Ferner1

1Department of Neurology, Guy's and St Thomas' Hospitals, London, UK

Correspondence: Dr RE Ferner, Department of Neurology, Guy's and St Thomas' Hospitals, London SE1 9RT, UK. Tel: +44 020 7188 3970; Fax: +44 020 7848 6123; E-mail: rosalie.ferner@kcl.ac.uk

Received 22 November 2005; Revised 3 May 2006; Accepted 4 May 2006; Published online 6 September 2006.

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Abstract

Neurofibromatosis 1 predisposes affected individuals to the development of benign and malignant tumours that are frequently disfiguring and difficult to manage. However, advances in molecular biology and the development of mouse models have facilitated our understanding of disease pathogenesis. Positron emission tomography has demonstrated that sophisticated imaging techniques have a role in diagnosing complex problems like malignant peripheral nerve sheath tumours, while the prospect of targeted therapies for Nf1 complications is tantalisingly close.

Keywords:

neurofibromin, neurofibroma, plexiform neurofibroma, glioma, malignant peripheral nerve sheath tumour

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