%0 Journal Article
%T Statins, bone, and neurofibromatosis type 1
%A Bruce R Korf
%J BMC Medicine
%D 2008
%I BioMed Central
%R 10.1186/1741-7015-6-22
%X Patients with neurofibromatosis type 1 (NF1) are largely sustained by the hope that advances in research will result in new forms of treatment. The NF1 gene was identified in 1990 and was quickly found to encode a GTPase activating protein (GAP) whose target is the oncoprotein Ras. However, despite great progress in the dissection of cell signaling pathways involved in the disorder, there is still no definitive treatment to prevent or reverse the complications. The path from bench to bedside may be the best approach, but the challenges should not be underestimated. There are, however, recent signs that provide hope that this approach will pay off. The paper by Kolanczyk et al published this month in BMC Medicine describes a preclinical mouse model for one of the most difficult NF1 lesions to treat, tibial dysplasia, and provides evidence that an existing drug with a known safety profile in children, lovastatin, may be beneficial, opening the door to clinical trials in humans.NF1 poses a particular challenge given the complex and highly variable phenotype [1]. The condition is one member of a group of disorders collectively referred to as 'neurofibromatoses', which includes NF1, NF2, and schwannomatosis. Each is associated with a distinct spectrum of nerve sheath tumors, and each is dominantly transmitted, due to mutation in a different gene. The hallmark lesion of NF1 is the neurofibroma, a benign tumor consisting of Schwann cells, fibroblasts, perineurial cells, and mast cells. Patients with NF1 may develop innumerable tumors on the skin, internal tumors, and large disfiguring tumors along major peripheral nerves. Other features include pigmentary lesions (caf¨¦-au-lait macules, skin-fold freckles), learning disabilities, malignant tumors (gliomas and malignant peripheral nerve sheath tumors), and skeletal dysplasias.NF1 patients may suffer from both focal and generalized skeletal disorders. Among focal disorders, long bone dysplasia, most commonly involving the tib
%U http://www.biomedcentral.com/1741-7015/6/22