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The spectrum of somatic and germlineNF1mutations in NF1 patients with spinal neurofibromas

✍ Scribed by Meena Upadhyaya; Gill Spurlock; Lan Kluwe; Nadia Chuzhanova; Emma Bennett; Nick Thomas; Abhijit Guha; Victor Mautner

Book ID
106257274
Publisher
Springer
Year
2009
Tongue
English
Weight
278 KB
Volume
10
Category
Article
ISSN
1364-6745

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## Abstract Neurofibromatosis type I (NF1) is an autosomal dominant familial tumor syndrome characterized by the presence of multiple benign neurofibromas. In 95% of NF1 individuals, a mutation is found in the __NF____1__ gene, and in 5% of the patients, the germline mutation consists of a microdel

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## Communicated by Haig H. Kazazian One of the main features of neurofibromatosis type 1 (NF1) is benign neurofibromas, 10-20% of which become transformed into malignant peripheral nerve sheath tumors (MPNSTs). The molecular basis of NF1 tumorigenesis is, however, still unclear. Ninety-one tumors