Optimizing biologically targeted clinical trials for neurofibromatosis

Bibliography

• Gutmann DH, Aylsworth A, Carey JC, The diagnostic evaluation and multidisciplinary management of neurofibromatosis 1 and neurofibromatosis 2. JAMA 1997;278:51-7
   PubMed Web of Science ®Google Scholar
• Evans DG, Howard E, Giblin C, Birth incidence and prevalence of tumor-prone syndromes: estimates from a UK family genetic register service. Am J Med Genet A 2010;152A(2):327-32
   PubMed Web of Science ®Google Scholar
• Huson SM, Compston DAS, Clark P, Harper PS. A genetic study of von Recklinghausen neurofibromatosis in southeast Wales. 1. Prevalence, fitness, mutation rate, and effect of parental transmission on severity. J Med Genet 1989;26704-11
   Google Scholar
• Lammert M, Friedman JM, Kluwe L, Mautner VF. Prevalence of neurofibromatosis 1 in German children at elementary school enrollment. Arch Dermatol 2005;141(1):71-4
   PubMed Web of Science ®Google Scholar
• Evans DG, Huson SM, Donnai D, A genetic study of type 2 neurofibromatosis in the United Kingdom. I. Prevalence, mutation rate, fitness, and confirmation of maternal transmission effect on severity. J Med Genet 1992;29(12):841-6
   PubMed Web of Science ®Google Scholar
• Carroll SL, Ratner N. How does the Schwann cell lineage form tumors in NF1? Glia 2008;56:1590-605
   PubMed Web of Science ®Google Scholar
• Korf BR. Plexiform neurofibromas. Am J Med Genet 1999;89:31-7
   PubMed Web of Science ®Google Scholar
• Tucker T, Friedman JM, Friedrich RE, Longitudinal study of neurofibromatosis 1 associated plexiform neurofibromas. J Med Genet 2009;46:81-5
   PubMed Web of Science ®Google Scholar
• Needle MN, Cnaan A, Dattilo J, Prognostic signs in the surgical management of plexiform neurofibroma: the Children's Hospital of Philadelphia experience, 1974 –1994. J Pediatr 1997;131:678-82
   PubMed Web of Science ®Google Scholar
• Rodriguez FJ, Perry A, Gutmann DH, Gliomas in neurofibromatosis type 1: a clinicopathologic study of 100 patients. J Neuropathol Exp Neurol 2008;67:240-9
   PubMed Web of Science ®Google Scholar
• Lewis RA, Gerson LP, Axelson KA, von Recklinghausen neurofibromatosis. II. Incidence of optic gliomata. Ophthalmology 1984;91:929-35
   PubMed Web of Science ®Google Scholar
• Listernick R, Ferner RE, Liu GT, Gutmann DH. Optic pathway gliomas in neurofibromatosis 1: controversies and recommendations. Ann Neurol 2007;61:189-98
   PubMed Web of Science ®Google Scholar
• Packer RJ, Ater J, Allen J, Carboplatin and vincristine chemotherapy for children with newly diagnosed progressive low-grade gliomas. J Neurosurg 1997;86:747-54
   PubMed Web of Science ®Google Scholar
• Fisher MJ, Loguidice M, Gutmann DH, Visual outcomes in children with neurofibromatosis type 1-associated optic pathway glioma following chemotherapy: a multicenter retrospective analysis. Neuro Oncol 2012;14:790-7
   PubMed Web of Science ®Google Scholar
• Pollack IF, Shultz B, Mulvihill JJ. The management of brainstem gliomas in patients with neurofibromatosis 1. Neurology 1996;46:1652-60
   PubMed Web of Science ®Google Scholar
• Ullrich NJ, Robertson R, Kinnamon DD, Moyamoya following cranial irradiation for primary brain tumors in children. Neurology 2007;68(12):932-8
   PubMed Web of Science ®Google Scholar
• Evans DG, Baser ME, McGaughran J, Malignant peripheral nerve sheath tumours in neurofibromatosis 1. J Med Genet 2002;39:311-14
   PubMed Web of Science ®Google Scholar
• Warbey V, Ferner R, Dunn J, [(18)F]FDG PET/CT in the diagnosis of malignant peripheral nerve sheath tumours in neurofibromatosis type-1. Eur J Nucl Med Mol Imaging 2009;13:36751-7
   Google Scholar
• Korf BR. Malignancy in neurofibromatosis type 1. Oncologist 2000;5:477-85
   PubMedGoogle Scholar
• Sharif S, Moran A, Huson SM, Women with neurofibromatosis 1 are at a moderately increased risk of developing breast cancer and should be considered for early screening. J Med Genet 2007;44:481-4
   PubMed Web of Science ®Google Scholar
• Elefteriou F, Kolanczyk M, Schindeler A, Skeletal abnormalities in neurofibromatosis type 1: approaches to therapeutic options. Am J Med Genet A 2009;149A:2327-38
   PubMed Web of Science ®Google Scholar
• Stevenson DA, Moyer-Mileur LJ, Murray M, Bone mineral density in children and adolescents with neurofibromatosis type 1. J Pediatr 2007;150:83-8
   PubMed Web of Science ®Google Scholar
• Brunetti-Pierri N, Doty S, Hicks J, Generalized metabolic bone disease in neurofibromatosis type I. Mol Genet Metab 2008;94:105-11
   PubMed Web of Science ®Google Scholar
• Cairns A, North K. Cerebrovascular Dysplasia in neurofibromatosis type 1. J Neurol Neurosurg Psychiatry 2008;79:1165-70
   PubMed Web of Science ®Google Scholar
• Friedman JM, Arbiser J, Epstein JA, Cardiovascular disease in neurofibromatosis 1: report of the NF1 Cardiovascular Task Force. Genet Med 2002;4:105-11
   PubMed Web of Science ®Google Scholar
• Hyman SL, Arthur Shores E, North KN. Learning disabilities in children with neurofibromatosis type 1: subtypes, cognitive profile, and attention-deficit-hyperactivity disorder. Dev Med Child Neurol 2006;48:973-7
   PubMed Web of Science ®Google Scholar
• Mautner VF, Kluwe L, Thakker SD, Leark RA. Treatment of ADHD in neurofibromatosis type 1. Dev Med Child Neurol 2002;44:164-70
   PubMed Web of Science ®Google Scholar
• Evans GR, Lloyd SK, Ramsden RT. Neurofibromatosis type 2. Adv Otorhinolaryngol 2011;70:91-8
   PubMedGoogle Scholar
• Mautner VF, Nguyen R, Kutta H, Bevacizumab induces regression of vestibular schwannomas in patients with neurofibromatosis type 2. Neuro Oncol 2010;12:14-18
   PubMed Web of Science ®Google Scholar
• Plotkin SR, Stemmer-Rachamimov AO, Barker FG II, Hearing improvement after bevacizumab in patients with neurofibromatosis type 2. N Engl J Med 2009;361:358-67
   PubMed Web of Science ®Google Scholar
• Plotkin SR, Merker VL, Halpin C, Bevacizumab for progressive vestibular schwannoma in neurofibromatosis type 2: a retrospective review of 31 patients. Otol Neurotol 2012;33:1046-52
   PubMed Web of Science ®Google Scholar
• Plotkin SR, O'Donnell CC, Curry WT, Spinal ependymomas in neurofibromatosis type 2: a retrospective analysis of 55 patients. J Neurosurg Spine 2011;14:543-7
   PubMed Web of Science ®Google Scholar
• Kaiser-Kupfer MI, Freidlin V, Datiles MB, The association of posterior capsular lens opacities with bilateral acoustic neuromas in patients with neurofibromatosis type 2. Arch Ophthalmol 1989;107:541-4
   PubMed Web of Science ®Google Scholar
• Hagel C, Lindenau M, Lamszus K, Polyneuropathy in neurofibromatosis 2: clinical findings, molecular genetics and neuropathological alterations in sural nerve biopsy specimens. Acta Neuropathol 2002;104:179-87
   PubMed Web of Science ®Google Scholar
• Wallace MR, Marchuk DA, Andersen LB, Type 1 neurofibromatosis gene: identification of a large transcript disrupted in three NF1 patients. Science 1990;249:181-6
   PubMed Web of Science ®Google Scholar
• Viskochil D, Buchberg AM, Xu G, Deletions and a translocation interrupt a cloned gene at the neurofibromatosis type 1 locus. Cell 1990;62:187-92
   PubMed Web of Science ®Google Scholar
• Marchuk DA, Saulino AM, Tavakkol R, cDNA cloning of the type 1 neurofibromatosis gene: complete sequence of the NF1 gene product. Genomics 1991;11:931-40
   PubMed Web of Science ®Google Scholar
• Gutmann DH, Zhang Y, Hirbe A. Developmental regulation of a neuron-specific neurofibromatosis 1 isoform. Ann Neurol 1999;46:777-82
   PubMed Web of Science ®Google Scholar
• Gutmann DH, Andersen LB, Cole JL, An alternatively-spliced mRNA in the carboxy terminus of the neurofibromatosis type 1 (NF1) gene is expressed in muscle. Hum Mol Genet 1993;2:989-92
   PubMed Web of Science ®Google Scholar
• Gutmann DH, Geist RT, Rose K, Expression of two new protein isoforms of the neurofibromatosis type 1 gene product, neurofibromin, in muscle tissues. Dev Dyn 1995;202:302-11
   PubMed Web of Science ®Google Scholar
• Ballester R, Marchuk D, Boguski M, The NF1 locus encodes a protein functionally related to mammalian GAP and yeast IRA proteins. Cell 1990;63:851-9
   PubMed Web of Science ®Google Scholar
• Bollag G, Clapp DW, Shih S, Loss of NF1 results in activation of the Ras signaling pathway and leads to aberrant growth in hematopoietic cells. Nat Genet 1996;12:144-8
   PubMed Web of Science ®Google Scholar
• Tong J, Hannan F, Zhu Y, Neurofibromin regulates G protein-stimulated adenylyl cyclase activity. Nat Neurosci 2002;5:95-6
   PubMedGoogle Scholar
• Dasgupta B, Dugan LL, Gutmann DH. The neurofibromatosis 1 gene product neurofibromin regulates pituitary adenylate cyclase-activating polypeptide-mediated signaling in astrocytes. J Neurosci 2003;23:8949-54
   PubMed Web of Science ®Google Scholar
• Brown JA, Gianino SM, Gutmann DH. Defective cAMP generation underlies the sensitivity of CNS neurons to neurofibromatosis-1 heterozygosity. J Neurosci 2010;30:5579-89
   PubMed Web of Science ®Google Scholar
• Trofatter JA, MacCollin MM, Rutter JL, A novel moesin-, ezrin-, radixin-like gene is a candidate for the neurofibromatosis 2 tumor suppressor. Cell 1993;72:791-800
   PubMed Web of Science ®Google Scholar
• Rouleau GA, Merel P, Lutchman M, Alteration in a new gene encoding a putative membrane-organizing protein causing neuro-fibromatosis type 2. Nature 1993;363:515-21
   PubMed Web of Science ®Google Scholar
• Gutmann DH, Sherman L, Seftor L, Increased expression of the NF2 tumor suppressor gene product, merlin, impairs cell motility, adhesion, and spreading. Hum Mol Genet 1999;8:267-75
   PubMed Web of Science ®Google Scholar
• Jukam D, Desplan C. Binary regulation of Hippo pathway by merlin/NF2, Kibra, Lgl, and melted specifies and maintains post-mitotic neuronal fate. Dev Cell 2011;21:874-87
   PubMed Web of Science ®Google Scholar
• Cooper J, Li W, You L, Merlin/NF2 functions upstream of the nuclear E3 ubiquitin ligase CRL4DCAF1 to suppress oncogenic gene expression. Sci Signal 2011;4:pt6
   PubMedGoogle Scholar
• Yi C, Kissil JL. Merlin in organ size control and tumorigenesis: hippo versus EGFR? Genes Dev 2010;24:1673-9
   PubMed Web of Science ®Google Scholar
• Yi C, Wilker EW, Yaffe MB, Validation of the p21-activated kinases as targets for inhibition in neurofibromatosis type 2. Cancer Res 2008;68:7932-7
   Google Scholar
• James MF, Han S, Polizzano C, NF2/merlin is a novel negative regulator of mTOR complex 1, and activation of mTORC1 is associated with meningioma and schwannoma growth. Mol Cell Biol 2009;29:4250-61
   PubMed Web of Science ®Google Scholar
• Houshmandi SS, Emnett RJ, Giovanini M, The neurofibromatosis 2 protein, merlin, regulates glial cell growth in an Erb2- and Src-dependent manner. Mol Cell Biol 2009;29:1472-86
   PubMed Web of Science ®Google Scholar
• Curto M, Cole BK, Lallemand D, Contact-dependent inhibition of EGFR signaling by Nf2/merlin. J Cell Biol 2007;177:893-903
   PubMed Web of Science ®Google Scholar
• Lauchle JO, Kim D, Le DT, Response and resistance to MEK inhibition in leukemias initiated by hyperactive Ras. Nature 2009;461:411-14
   PubMed Web of Science ®Google Scholar
• Chang T, Krisman K, Theobald EH, Sustained MEK inhibition abrogates myeloproliferative disease in Nf1 mutant mice. J Clin Invest 2013;123(1):335-9
   PubMed Web of Science ®Google Scholar
• Dasgupta B, Yi Y, Chen DY, Proteomic analysis reveals hyperactivation of the mammalian target of rapamycin pathway in neurofibromatosis 1-associated human and mouse brain tumors. Cancer Res 2005;65:2755-60
   PubMed Web of Science ®Google Scholar
• Hegedus B, Banerjee D, Yeh TH, Preclinical cancer therapy in a mouse model of neurofibromatosis-1 optic glioma. Cancer Res 2008;68:1520-8
   PubMed Web of Science ®Google Scholar
• Jessen WJ, Miller SJ, Jousma E, MEK inhibition exhibits efficacy in human and mouse neurofibromatosis tumors. J Clin Invest 2013;123(1):340-7
   PubMed Web of Science ®Google Scholar
• Zhu Y, Ghosh P, Charnay P, Neurofibromas in NF1: Schwann cell origin and role of tumor environment. Science 2002;296:920-2
   PubMed Web of Science ®Google Scholar
• Bajenaru ML, Zhu Y, Hedrick NM, Astrocyte-specific inactivation of the neurofibromatosis 1 gene (NF1) is insufficient for astrocytoma formation. Mol Cell Biol 2002;22:5100-13
   PubMed Web of Science ®Google Scholar
• Zhu Y, Harada T, Liu L, Inactivation of NF1 in CNS causes increased glial progenitor proliferation and optic glioma formation. Development 2005;132:5577-88
   PubMed Web of Science ®Google Scholar
• Bajenaru ML, Hernandez MR, Perry A, Optic nerve glioma in mice requires astrocyte Nf1 gene inactivation and Nf1 brain heterozygosity. Cancer Res 2003;63:8573-7
   PubMed Web of Science ®Google Scholar
• Robertson KA, Nalepa G, Yang FC, Imatinib mesylate for plexiform neurofibromas in patients with neurofibromatosis type 1: a phase 2 trial. Lancet Oncol 2012;13:1218-24
   PubMed Web of Science ®Google Scholar
• Yang FC, Ingram DA, Chen S, Nf1-dependent tumors require a microenvironment containing Nf1+/- and c-kit-dependent bone marrow. Cell 2008;135:437-48
   PubMed Web of Science ®Google Scholar
• Daginakatte G, Gutmann DH. Neurofibromatosis-1 (Nf1) heterozygous brain microglia elaborate paracrine factors that promote Nf1-deficient astrocyte and glioma growth. Hum Mol Genet 2007;16:1098-112
   PubMed Web of Science ®Google Scholar
• Reilly KM, Loisel DA, Bronson RT, Nf1;Trp53 mutant mice develop glioblastoma with evidence of strain-specific effects. Nat Genet 2000;26:109-13
   PubMed Web of Science ®Google Scholar
• Amlin-Van Schaick J, Kim S, Broman KW, Reilly KM. Scram1 is a modifier of spinal cord resistance for astrocytoma on mouse Chr 5. Mamm Genome 2012;23:277-85
   PubMed Web of Science ®Google Scholar
• Reilly KM, Tuskan RG, Christy E, Susceptibility to astrocytoma in mice mutant for Nf1 and Trp53 is linked to chromosome 11 and subject to epigenetic effects. Proc Natl Acad Sci USA 2004;101:13008-13
   PubMed Web of Science ®Google Scholar
• Blakeley JO, Evans DG, Adler J, Consensus recommendations for current treatments and accelerating clinical trials for patients with neurofibromatosis type 2. Am J Med Genet A 2011; Epub 2011 Dec 2
   PubMedGoogle Scholar
• Plotkin SR, Halpin C, Blakeley JO, Suggested response criteria for phase II antitumor drug studies for neurofibromatosis type 2 related vestibular schwannoma. J Neurooncol 2009;93:61-77
   PubMed Web of Science ®Google Scholar
• Halpin C, Rauch SD. Using audiometric thresholds and word recognition in a treatment study. Otol Neurotol 2006;27:110-16
   PubMed Web of Science ®Google Scholar
• O'Shaughnessy JA, Wittes RE, Burke G, Commentary Concerning Demonstration of Safety and Efficacy of Investigational Anticancer Agents in Clinical Trials. J Clin Oncol 1991;9:2225-32
   PubMed Web of Science ®Google Scholar
• U.S. Department of Health and Human Services Food and Drug Administration Center for Drug Evaluation and Research (CDER) Center for Biologics Evaluation and Research (CBER), 2007, Guidance for Industry Clinical Trail Endpoints for the Approval of Cancer Drugs and Biologics. Available from: http://www.fda.gov/downloads/Drugs/GuidanceComplianceRegulatoryInformation/Guidances/ucm071590.pdf
   Google Scholar
• Dombi E, Solomon J, Gillespie AJ, NF1 plexiform neurofibroma growth rate by volumetric MRI: relationship to age and body weight. Neurology 2007;68:643-7
   PubMed Web of Science ®Google Scholar
• Harris GJ, Plotkin SR, Maccollin M, Three-dimensional volumetrics for tracking vestibular schwannoma growth in neurofibromatosis type II. Neurosurgery 2008;62:1314-19
   PubMed Web of Science ®Google Scholar
• Plotkin SR, Bredella MA, Cai W, Quantitative assessment of whole-body tumor burden in adult patients with neurofibromatosis. PLoS One 2012;7:e35711
   PubMedGoogle Scholar
• Kluwe L, Nguyen R, Vogt J, Internal tumor burden in neurofibromatosis type I patients with large NF1 deletions. Genes Chromosomes Cancer 2012;51:447-51
   PubMed Web of Science ®Google Scholar
• Nguyen R, Kluwe L, Fuensterer C, Plexiform neurofibromas in children with neurofibromatosis type 1: frequency and associated clinical deficits. J Pediatr 2011;159:652-5
   PubMed Web of Science ®Google Scholar
• Widemann BC, Salzer WL, Arceci RJ, Phase 1 trial and pharmacokinetic study of the farnesyl transferase inhibitor tipifarnib in children with refractory solid tumors or neurofibromatosis type 1 and plexiform neurofibromas. J Clin Oncol 2009;24:507-16
   Google Scholar
• Wong HK, Lahdenranta J, Kamoun WS, Anti-vascular endothelial growth factor therapies as a novel therapeutic approach to treating neurofibromatosis-related tumors. Cancer Res 2010;70:3483-93
   PubMed Web of Science ®Google Scholar
• Yener U, Avsar T, Akgün E, Assessment of antiangiogenic effect of imatinib mesylate on vestibular schwannoma tumors using in vivo corneal angiogenesis assay. J Neurosurg 2012;117:697-704
   PubMed Web of Science ®Google Scholar
• Acosta MT, Kardel PG, Walsh KS, Lovastatin as treatment for neurocognitive deficits in neurofibromatosis type 1: phase I study. Ped Neurol 2011;45:241-5
   Web of Science ®Google Scholar
• Nardella C, Lunardi A, Patnaik A, The APL paradigm and the “co-clinical trial” project. Cancer Discov 2011;1:108-16
   PubMed Web of Science ®Google Scholar
• Chen Z, Cheng K, Walton Z, A murine lung cancer co-clinical trial identifies genetic modifiers of therapeutic response. Nature 2012;483:613-17
   PubMed Web of Science ®Google Scholar
• Le LQ, Liu C, Shipman T, Susceptible stages in Schwann cells for NF1-associated plexiform neurofibroma development. Cancer Res 2011;71:4686-95
   PubMed Web of Science ®Google Scholar
• Le LQ, Shipman T, Burns DK, Parada LF. Cell of origin and microenvironment contribution for NF1-associated dermal neurofibromas. Cell Stem Cell 2009;4:453-63
   PubMed Web of Science ®Google Scholar
• Lee DY, Gianino SM, Gutmann DH. Innate neural stem cell heterogeneity determines the patterning of glioma formation in children. Cancer Cell 2012;22:131-8
   PubMed Web of Science ®Google Scholar
• Weber JD, Gutmann DH. Deconvoluting mTOR biology. Cell Cycle 2012;11:236-48
   PubMed Web of Science ®Google Scholar
• Northcutt PA, Jones DT, Kool M, Medulloblastomics: the end of the beginning. Nat Rev Cancer 2012;12:818-34
   PubMed Web of Science ®Google Scholar
• Atkinson JM, Shelat AA, Carcaboso AM, An integrated in vitro and in vivo high-throughput screen identifies treatment leads for ependymoma. Cancer Cell 2011;20:384-99
   PubMed Web of Science ®Google Scholar
• Silva AJ, Frankland PW, Marowitz Z, A mouse model for the learning and memory deficits associated with neurofibromatosis type 1. Nat Genet 1997;15:281-4
   PubMed Web of Science ®Google Scholar
• Diggs-Andrews KA, Tokuda K, Izumi Y, Dopamine deficiency underlies learning deficits in neurofibromatosis-1 mice. Ann Neurol (in press)
   Web of Science ®Google Scholar
• Brown JA, Emnett RJ, White CR, Reduced striatal dopamine underlies the attention system dysfunction in neurofibromatosis-1 mutant mice. Hum Mol Genet 2010;19:4515-28
   PubMed Web of Science ®Google Scholar
• Cui Y, Costa RM, Murphy GG, Neurofibromin regulation of ERK signaling modulates GABA release and learning. Cell 2008;135:549-60
   PubMed Web of Science ®Google Scholar
• Dasgupta B, Li W, Perry A, Gutmann DH. Glioma formation in neurofibromatosis 1 reflects preferential activation of K-RAS in astrocytes. 2005;65:236-45
   Google Scholar
• Kwon CH, Zhao D, Chen J, Pten haploinsufficiency accelerates formation of high-grade astrocytomas. Cancer Res 2008;68:3286-94
   PubMed Web of Science ®Google Scholar
• Zhu Y, Guignard F, Zhao D, Early inactivation of p53 tumor suppressor gene cooperating with NF1 loss induces malignant astrocytoma. Cancer Cell 2005;8:119-30
   PubMed Web of Science ®Google Scholar
• Mayes DA, Rivzi TA, Cancelas JA, Perinatal or adult Nf1 inactivation using tamoxifen-inducible PlpCre each cause neurofibroma formation. Cancer Res 2011;71:4675-85
   PubMed Web of Science ®Google Scholar
• Wu J, Williams JP, Rizvi TA, Plexiform and dermal neurofibromas and pigmentation are caused by Nf1 loss in desert hedgehog-expressing cells. Cancer Cell 2008;13:105-16
   PubMed Web of Science ®Google Scholar
• Cichowski K, Shih TS, Schmitt E, Mouse models of tumor development in neurofibromatosis type 1. Science 1999;286:2172-6
   PubMed Web of Science ®Google Scholar
• Vogel KS, Klesse LJ, Velasco-Miguel S, Mouse tumor model for neurofibromatosis type 1. Science 1999;286:2176-9
   PubMed Web of Science ®Google Scholar
• El-Khassawna T, Toben D, Kolanczyk M, Deterioration of fracture healing in the mouse model of NF1 long bone dysplasia. Bone 2012;51:651-60
   PubMed Web of Science ®Google Scholar
• El-Hoss J, Sullivan K, Cheng T, A murine model of neurofibromatosis type 1 tibial pseudarthrosis featuring proliferative fibrous tissue and osteoclast-like cells. J Bone Miner Res 2011; Sep 29 Epub
   Web of Science ®Google Scholar
• Wang W, Nyman JS, Ono K, Mice lacking Nf1 in osteochondroprogenitor cells display skeletal dysplasia similar to patients with neurofibromatosis type 1. Hum Mol Genet 2011;20:3910-24
   PubMed Web of Science ®Google Scholar
• Zhang W, Rhodes SD, Zhao L, Primary osteopathy of vertebrae in a neurofibromatosis type 1 murine model. Bone 2011;48:1378-87
   PubMed Web of Science ®Google Scholar
• Le DT, Kong N, Zhu Y, Somatic inactivation of Nf1 in hematopoietic cells results in a progressive myelodysplastic disorder. Blood 2004;103:4243-50
   PubMed Web of Science ®Google Scholar
• Tischler AS, Shih TS, Williams BO, Jacks T. Characterization of pheochromocytomas in a mouse strain with a targeted disruptive mutation of the neurofibromatosis gene Nf1. Endocr Pathol 1995;6:323-35
   PubMed Web of Science ®Google Scholar
• Giovannini M, Robanus-Maandag E, van der Valk M, Conditional biallelic Nf2 mutation in the mouse promotes manifestations of human neurofibromatosis type 2. Genes Dev 2000;14:1617-30
   PubMed Web of Science ®Google Scholar
• Giovannini M, Robanus-Maandag E, Niwa-Kawakita M, Schwann cell hyperplasia and tumors in transgenic mice expressing a naturally occurring mutant NF2 protein. Genes Dev 1999;13:978-86
   PubMed Web of Science ®Google Scholar
• Kalamarides M, Stemmer-Rachamimov AO, Niwa-Kawakita M, Identification of a progenitor cell of origin capable of generating diverse meningioma histological subtypes. Oncogene 2011;30:2333-44
   PubMed Web of Science ®Google Scholar
• Kalamarides M, Niwa-Kawakita M, Leblois H, Nf2 inactivation in arachnoidal cells is rate-limiting for meningioma development in the mouse. Genes Dev 2002;16:1060-5
   PubMed Web of Science ®Google Scholar
• Jongsma J, van Montfort E, Vooiks M, A conditional mouse model for malignant mesothelioma. Cancer Cell 2008;13:261-71
   PubMed Web of Science ®Google Scholar
• Schulz A, Baader SL, Niwa-Kawakita M, The role of merlin isoform 2 in neurofibromatosis type 2-associated polyneuropathy. Nat Med (in press)
   Google Scholar
• Gupta A, Cohen B, Ruggierri P, A phase I study of thalidomide for the treatment of plexiform neurofibroma in patients with neurofibromatosis 1 (NF1). Neurology 2000;54:12-13
   Google Scholar
• Packer R, Gutmann D, Rubenstein A, Plexiform neurofibromas in NF1: toward biologic-based therapy. Neurology 2002;58:1461-70
   PubMed Web of Science ®Google Scholar
• Widemann B, Dombi E, Gillespie A, Phase II randomized, flexible cross-over, double-blinded, placebo-controlled trial of the farnesyl transferase inhibitor (FTI) tipifarnib (R115777) in pediatric patients (pts) with neurofibromatosis type 1 (NF1) and progressive plexiform neurofibromas (PN). Proceedings of Children's Tumor Foundation Meeting, Portland, OR; 2009
   Google Scholar
• Babovic-Vuksanovic D, Ballman K, Michels V, Phase II trial of pirfenidone in adults with neurofibromatosis type 1. Neurology 2006;67:1860-2
   PubMed Web of Science ®Google Scholar
• Babovic-Vuksanovic D, Widemann BC, Dombi E, Phase I trial of pirfenidone in children with neurofibromatosis 1 and plexiform neurofibromas. Pediatr Neurol 2007;36:293-300
   PubMed Web of Science ®Google Scholar
• Fisher MJ. Photodynamic therapy in children with NF1 and plexiform neurofibromas. Proceedings of Children's Tumor Foundation Meeting, Portland OR; 2009
   Google Scholar
• Weiss B, Fisher M, Dombi E, Phase II study of the mTOR inhibitor sirolimus for non-progressive NF1-associated plexiform neurofibromas: a Neurofibromatosis Consortium Study. Proceedings of the ISPNO Meeting, Vienna Austria; 2010
   Google Scholar
• Jakacki RI, Bouffet E, Adamson PC, A phase 1 study of vinblastine in combination with carboplatin for children with low-grade gliomas: a Children's Oncology Group phase 1 consortium study. Neuro Oncol 2011;13:910-15
   PubMed Web of Science ®Google Scholar
• Kim A, Dombi E, Tepas K, Phase I trial and pharmacokinetic study of sorafenib in children with neurofibromatosis type I and plexiform neurofibromas. Pediatr Blood Cancer 2012; Epub Sep 7
   Web of Science ®Google Scholar
• Albritton KH, Rankin C, Coffin CM, Phase II study of erlotinib in metastatic or unresectable malignant peripheral nerve sheath tumors (MPNST). J Clin Oncol 2006;24:524s
   Web of Science ®Google Scholar
• Maki RG, D'Adamo DR, Koehan ML, Phase II study of sorafenib in patients with metastatic or recurrent sarcomas. J Clin Oncol 2009;27:133-40
   Google Scholar
• Chugh R, Wathen JK, Maki RG, Phase II multicenter trial of imatinib in 10 histologic subtypes of sarcoma using a Bayesian hierarchical statistical model. J Clin Oncol 2009;27:3148-53
   PubMed Web of Science ®Google Scholar
• Schuetze S, Wathen JK, Choy E, Results of a sarcoma alliance for research through collaboration (SARC) phase II trial of dasatinib in previously treated, high-grade, advanced sarcoma. J Clin Oncol 2009;28:15s
   PubMedGoogle Scholar
• Riccardi VM. A controlled multiphase trial of ketotifen to minimize neurofibroma-associated pain and itching. Arch Dermatol 1993;129:577-81
   PubMed Web of Science ®Google Scholar
• Koenig MK, Hebert AA, Roberson J, Topical rapamycin therapy to alleviate the cutaneous manifestations of tuberous sclerosis complex: a double-blind, randomized, controlled trial to evaluate the safety and efficacy of topically applied rapamycin. Drugs R D 2012;12:121-6
   PubMedGoogle Scholar
• Kadota RP, Kun LE, Langston JW, Cyclophosphamide for the treatment of progressive low-grade astrocytoma: a Pediatric Oncology Group phase II study. J Pediatr Hematol Oncol 1999;21:198-202
   PubMed Web of Science ®Google Scholar
• Karajannis MA, Legault G, Hagiwara M, Phase II trial of lapatinib in adult and pediatric patients with neurofibromatosis type 2 and progressive vestibular schwannomas. Neuro Oncol 2012;14:1163-70
   PubMed Web of Science ®Google Scholar