Neurofibromatosis Type 1

Neurofibromatosis Type 1 (NF1) is a relatively common genetic disorder that predisposes affected individuals for developing multiple tumours, predominantly neurofibromas. NF1 is caused by a loss of the tumour suppresser protein neurofibromin, which was discovered over 20 years ago. NF1 patients develop a wide spectrum of benign tumours, including in the skin, deep soft tissues and brain, as well as malignant tumours including malignant peripheral nerve sheath tumours, malignant gliomas and acute myeloblastic leukemia. NF1 patients are also at risk for a spectrum of orthopaedic and neurological disorders, including bone abnormalities and speech and learning disorders. This book, edited by Matthias Karajannis, MD, MS and Jeffrey Allen, MD, who direct the Comprehensive NF Center at NYU Langone Medical Center in New York, represents a valuable resource for both scientists and clinicians involved in NF1 research and patient care. Each chapter is written by expert authors in the field and addresses one or several specific topics in NF1 with a focus on disease biology, genetics, diagnostics and/or clinical management. The latest scientific advances in the field of NF1 are discussed, along with practical management recommendations and an outlook on future avenues of NF1 research.