Children with NF1 often come to medical attention when birthmarks called café-au-lait macules are found on their skin; however, it is not known whether the presence of these birthmarks can accurately predict who will develop NF1 or what features of NF1 they will have.
Kumar MG, Emnett RJ, Bayliss SJ, Gutmann DH. Glomus tumors in individuals with neurofibromatosis type 1. J Am Acad Dermatol. 71: 44-8, 2014.
Nunley KS, Gao F, Albers AC, Bayliss SJ, Gutmann DH. Predictive value of café-au-lait macules at initial consultation in the diagnosis of neurofibromatosis type 1. Arch. Dermat. 145: 883-7, 2009.
A new initiative is focused on developing mouse models of brain tumors and attention deficits that incorporate the specific NF1 genetic mutations observed in people with NF1. These unique strains will be employed to develop more individualized treatments for children and adults with NF1-associated clinical problems.
Gutmann DH. Eliminating barriers to precision medicine: Learning from neurofibromatosis type 1. Neurology. (in press)
Hirbe AC, Pekmezci M, Dahiya S, Apicelli AJ, Van Tine BA, Perry A, Gutmann DH. BRAFV600E mutation in sporadic and neurofibromatosis type 1-related malignant peripheral nerve sheath tumors. Neuro Oncol. 16: 466-7, 2014.
Yu J, Deshmukh H, Payton JE, Durham C, Scheithauer BW, Tihan T, Prayson RA, Guha A, Bridge JA, Ferner RE, Lindberg GM, Gutmann RJ, Emnett RJ, Salavaggione L, Gutmann DH, Nagarajan R, Watson MA, Perry A. Array-based comparative genomic hybridization identifies CDK4 and FOXM1 alterations as independent predictors of survival in malignant peripheral nerve sheath tumor. Clin Cancer Res. 17: 1924-34, 2011.
Bhola P, Banerjee S, Mukherjee J, Balasubramanium A, Arun V, Karim Z, Burrell K, Croul S, Gutmann DH, Guha A. Preclinical in vivo evaluation of rapamycin in human malignant peripheral nerve sheath explant xenograft. Int. J Cancer. 126: 563-71, 2010.
Miller SJ, Rangwala F, Williams J, Ackerman P, Kong S, Jegga AG, Kaiser S, Aronow BJ, Frahm S, Luwe L, Mautner V, Updahyaya M, Muir D, Wallace M, Hagen J, Quelle DE, Watson MA, Perry A, Gutmann DH, Ratner N. Large-scale molecular comparison of human schwann cells to malignant nerve sheath tumor cell lines and tissues. Cancer Res. 66: 2584-91, 2006.