© 2003 BMJ Publishing Group
LETTER TO JMG
NF1 mutations and clinical spectrum in patients with spinal neurofibromas
1 Laboratory for Tumour Biology and Development Disorders, Department of Maxillofacial Surgery, University Hospital Hamburg-Eppendorf, Germany
2 Department of Neurosurgery, Medical College Hannover, Germany
3 Hamburg-Othmarschen MRI Institute, Germany
4 Department of Neurology, Klinikum Nord Ochsenzoll, Hamburg, Germany
Correspondence to:
Correspondence to:
Dr L Kluwe, Laboratory for Tumour Biology and Development Disorders, Department of Maxillofacial Surgery, University Hospital Eppendorf, Martinistrasse 52, 20246 Hamburg, Germany;
kluwe@uke.uni-hamburg.de
Keywords: NF1; NF1 mutation; spinal tumours
| The first 150 words of the full text of this article appear below. |
Neurofibromatosis 1 (NF1) is an autosomal dominant disorder associated with a variety of benign and malignant lesions such as café au lait spots, neurofibromas, phaeochromocytomas, pilocytic astrocytomas, and malignant peripheral nerve sheath tumours.1–3 With an incidence of 1 in 4000, NF1 is caused by genetic alterations of the NF1 gene located on 17q11.2.4–6 Consisting of 60 exons, the NF1 gene is a tumour suppressor gene which leads to tumorigenesis upon inactivation of both alleles.7–9
Spinal tumours cause neurological symptoms in about 2% of NF1 patients and can be detected in 40% of NF1 patients by magnetic resonance imaging (MRI).10 Patients with multiple spinal tumours but very few or no other clinical symptoms of NF1, including three multigenerational families,11–13 have been reported, suggesting a subgroup or a distinct genetic form of NF1, spinal neurofibromatosis (SNF).14 In one of these multigenerational families, a truncating mutation in exon 46 of the NF1 gene
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