Galvin R et al: Neurofibromatosis in the era of precision medicine: development of MEK inhibitors and recent successes with selumetinib. Curr Oncol Rep. 23(4):45, 2021
Kim A et al: Targeting refractory sarcomas and malignant peripheral nerve sheath tumors in a phase i/ii study of sirolimus in combination with ganetespib (SARC023). Sarcoma. 2020:5784876, 2020
Ullrich NJ et al: A phase II study of continuous oral mTOR inhibitor everolimus for recurrent, radiographic-progressive neurofibromatosis type 1-associated pediatric low-grade glioma: a Neurofibromatosis Clinical Trials Consortium study. Neuro Oncol. 22(10):1527-35, 2020
Viskochil D et al: Volumetric MRI in neurofibromatosis type 1 (NF1) comes of age to help determine initiation and monitoring of targeted therapies for plexiform neurofibromas. Acad Radiol. 25(2):141-3, 2018
de Blank PMK et al: Optic pathway gliomas in neurofibromatosis type 1: an update: surveillance, treatment indications, and biomarkers of vision. J Neuroophthalmol. 37 Suppl 1:S23-32, 2017
McCarville MB: What MRI can tell us about neurogenic tumors and rhabdomyosarcoma. Pediatr Radiol. 46(6):881-90, 2016
Rad E et al: Neurofibromatosis type 1: fundamental insights into cell signalling and cancer. Semin Cell Dev Biol. 52:39-46, 2016
Moharir M et al: Utility of positron emission tomography for tumour surveillance in children with neurofibromatosis type 1. Eur J Nucl Med Mol Imaging. 37(7):1309-17, 2010
Brems H et al: Mechanisms in the pathogenesis of malignant tumours in neurofibromatosis type 1. Lancet Oncol. 10(5):508-15, 2009
Laffan EE et al: Pediatric soft-tissue tumors and pseudotumors: MR imaging features with pathologic correlation: part 2. Tumors of fibroblastic/myofibroblastic, so-called fibrohistiocytic, muscular, lymphomatous, neurogenic, hair matrix, and uncertain origin. Radiographics. 29(4):e36, 2009
Hassell DS et al: Imaging appearance of diffuse neurofibroma. AJR Am J Roentgenol. 190(3):582-8, 2008
Bredella MA et al: Value of PET in the assessment of patients with neurofibromatosis type 1. AJR Am J Roentgenol. 189(4):928-35, 2007
Son JM et al: Varying degrees of FDG uptake in multiple benign neurofibromas on PET/CT. Br J Radiol. 80(957):e222-6, 2007
Ferner RE et al: Guidelines for the diagnosis and management of individuals with neurofibromatosis 1 (NF1). J Med Genet. 44(2):81-8, 2006
Mautner VF et al: MRI growth patterns of plexiform neurofibromas in patients with neurofibromatosis type 1. Neuroradiology. 48(3):160-5, 2006
Jacquemin C et al: Orbit deformities in craniofacial neurofibromatosis type 1. AJNR Am J Neuroradiol. 24(8):1678-82, 2003
Jacquemin C et al: Reassessment of sphenoid dysplasia associated with neurofibromatosis type 1. AJNR Am J Neuroradiol. 23(4):644-8, 2002
Fortman BJ et al: Neurofibromatosis type 1: a diagnostic mimicker at CT. Radiographics. 21(3):601-12, 2001
Lin J et al: Cross-sectional imaging of peripheral nerve sheath tumors: characteristic signs on CT, MR imaging, and sonography. AJR Am J Roentgenol. 176(1):75-82, 2001
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References
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Tables
KEY FACTS
Terminology
Imaging
Top Differential Diagnoses
Diagnostic Checklist
TERMINOLOGY
Abbreviations
Neurofibromatosis type 1 (NF1); neurofibroma (NF)
Synonyms
von Recklinghausen disease, autosomal dominant neurofibromatosis
Galvin R et al: Neurofibromatosis in the era of precision medicine: development of MEK inhibitors and recent successes with selumetinib. Curr Oncol Rep. 23(4):45, 2021
Kim A et al: Targeting refractory sarcomas and malignant peripheral nerve sheath tumors in a phase i/ii study of sirolimus in combination with ganetespib (SARC023). Sarcoma. 2020:5784876, 2020
Ullrich NJ et al: A phase II study of continuous oral mTOR inhibitor everolimus for recurrent, radiographic-progressive neurofibromatosis type 1-associated pediatric low-grade glioma: a Neurofibromatosis Clinical Trials Consortium study. Neuro Oncol. 22(10):1527-35, 2020
Viskochil D et al: Volumetric MRI in neurofibromatosis type 1 (NF1) comes of age to help determine initiation and monitoring of targeted therapies for plexiform neurofibromas. Acad Radiol. 25(2):141-3, 2018
de Blank PMK et al: Optic pathway gliomas in neurofibromatosis type 1: an update: surveillance, treatment indications, and biomarkers of vision. J Neuroophthalmol. 37 Suppl 1:S23-32, 2017
McCarville MB: What MRI can tell us about neurogenic tumors and rhabdomyosarcoma. Pediatr Radiol. 46(6):881-90, 2016
Rad E et al: Neurofibromatosis type 1: fundamental insights into cell signalling and cancer. Semin Cell Dev Biol. 52:39-46, 2016
Moharir M et al: Utility of positron emission tomography for tumour surveillance in children with neurofibromatosis type 1. Eur J Nucl Med Mol Imaging. 37(7):1309-17, 2010
Brems H et al: Mechanisms in the pathogenesis of malignant tumours in neurofibromatosis type 1. Lancet Oncol. 10(5):508-15, 2009
Laffan EE et al: Pediatric soft-tissue tumors and pseudotumors: MR imaging features with pathologic correlation: part 2. Tumors of fibroblastic/myofibroblastic, so-called fibrohistiocytic, muscular, lymphomatous, neurogenic, hair matrix, and uncertain origin. Radiographics. 29(4):e36, 2009
Hassell DS et al: Imaging appearance of diffuse neurofibroma. AJR Am J Roentgenol. 190(3):582-8, 2008
Bredella MA et al: Value of PET in the assessment of patients with neurofibromatosis type 1. AJR Am J Roentgenol. 189(4):928-35, 2007
Son JM et al: Varying degrees of FDG uptake in multiple benign neurofibromas on PET/CT. Br J Radiol. 80(957):e222-6, 2007
Ferner RE et al: Guidelines for the diagnosis and management of individuals with neurofibromatosis 1 (NF1). J Med Genet. 44(2):81-8, 2006
Mautner VF et al: MRI growth patterns of plexiform neurofibromas in patients with neurofibromatosis type 1. Neuroradiology. 48(3):160-5, 2006
Jacquemin C et al: Orbit deformities in craniofacial neurofibromatosis type 1. AJNR Am J Neuroradiol. 24(8):1678-82, 2003
Jacquemin C et al: Reassessment of sphenoid dysplasia associated with neurofibromatosis type 1. AJNR Am J Neuroradiol. 23(4):644-8, 2002
Fortman BJ et al: Neurofibromatosis type 1: a diagnostic mimicker at CT. Radiographics. 21(3):601-12, 2001
Lin J et al: Cross-sectional imaging of peripheral nerve sheath tumors: characteristic signs on CT, MR imaging, and sonography. AJR Am J Roentgenol. 176(1):75-82, 2001
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