Abstract
Neurofibromatosis type 1 (NF1) is a dominantly inherited multi-system disorder. Major features include pigmentary abnormalities, benign tumors of the nerve sheath (neurofibromas), malignant tumors, learning disabilities, and skeletal dysplasia. The NF1 gene functions as a tumor suppressor, but haploinsuffiency probably accounts for some aspects of the non-tumor phenotype. The protein product, neurofibromin, is a Ras GTPase-activating protein, and various Ras pathway inhibitors are being tested in preclinical models and clinical trials for effectiveness in treating NF1 complications. This month in BMC Medicine, a paper by Kolanczyk et al describes a preclinical mouse model for tibial dysplasia and provides evidence that the drug lovastatin – in use to treat cardiovascular disease – may be beneficial, opening the door to clinical trials in humans.
Highlights
Patients with neurofibromatosis type 1 (NF1) are largely sustained by the hope that advances in research will result in new forms of treatment
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
The hallmark lesion of NF1 is the neurofibroma, a benign tumor consisting of Schwann cells, fibroblasts, perineurial cells, and mast cells
Summary
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. 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 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.
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