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Neurofibromatosis Type 1
Bernadette L. Koch, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Diagnostic Checklist

          TERMINOLOGY

          • Abbreviations

            • Neurofibromatosis type 1 (NF1); neurofibroma (NF)
          • Synonyms

            • von Recklinghausen disease, autosomal dominant neurofibromatosis
          • Definitions

            • Autosomal dominant neurocutaneous disorder (phakomatosis)
            • Diagnostic NF1 criteria: If ≥ 2 of following present
              • > 6 café au lait spots measuring ≥ 5 mm in prepubertal & ≥ 15 mm in postpubertal patients
              • ≥ 2 NFs or 1 plexiform NF (PNF)
              • Axillary/inguinal freckling
              • Visual pathway glioma
              • ≥ Lisch nodules (optic hamartomas)
              • Distinctive bony lesion
                • Sphenoid wing dysplasia
                • Thinning of long bones
                  • ± pseudoarthrosis
              • 1st-degree relative with NF1
            • Peripheral nerve sheath tumor (PNST) = schwannoma, NF, & PNF
            • NFs: Localized, plexiform, & diffuse variants

          IMAGING

          • General Features

            • CT Findings

              • MR Findings

                • Imaging Recommendations

                  DIFFERENTIAL DIAGNOSIS

                    PATHOLOGY

                    • General Features

                      • Staging, Grading, & Classification

                        • Gross Pathologic & Surgical Features

                          • Microscopic Features

                            CLINICAL ISSUES

                            • Presentation

                              • Demographics

                                • Natural History & Prognosis

                                  • Treatment

                                    DIAGNOSTIC CHECKLIST

                                    • Consider

                                      • Image Interpretation Pearls

                                        Selected References

                                        1. 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
                                        2. 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
                                        3. 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
                                        4. 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
                                        5. 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
                                        6. McCarville MB: What MRI can tell us about neurogenic tumors and rhabdomyosarcoma. Pediatr Radiol. 46(6):881-90, 2016
                                        7. Rad E et al: Neurofibromatosis type 1: fundamental insights into cell signalling and cancer. Semin Cell Dev Biol. 52:39-46, 2016
                                        8. 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
                                        9. Brems H et al: Mechanisms in the pathogenesis of malignant tumours in neurofibromatosis type 1. Lancet Oncol. 10(5):508-15, 2009
                                        10. 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
                                        11. Hassell DS et al: Imaging appearance of diffuse neurofibroma. AJR Am J Roentgenol. 190(3):582-8, 2008
                                        12. 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
                                        13. Son JM et al: Varying degrees of FDG uptake in multiple benign neurofibromas on PET/CT. Br J Radiol. 80(957):e222-6, 2007
                                        14. Ferner RE et al: Guidelines for the diagnosis and management of individuals with neurofibromatosis 1 (NF1). J Med Genet. 44(2):81-8, 2006
                                        15. Mautner VF et al: MRI growth patterns of plexiform neurofibromas in patients with neurofibromatosis type 1. Neuroradiology. 48(3):160-5, 2006
                                        16. Jacquemin C et al: Orbit deformities in craniofacial neurofibromatosis type 1. AJNR Am J Neuroradiol. 24(8):1678-82, 2003
                                        17. Jacquemin C et al: Reassessment of sphenoid dysplasia associated with neurofibromatosis type 1. AJNR Am J Neuroradiol. 23(4):644-8, 2002
                                        18. Fortman BJ et al: Neurofibromatosis type 1: a diagnostic mimicker at CT. Radiographics. 21(3):601-12, 2001
                                        19. 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
                                        Related Anatomy
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                                        Related Differential Diagnoses
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                                        References
                                        Tables

                                        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
                                                • Definitions

                                                  • Autosomal dominant neurocutaneous disorder (phakomatosis)
                                                  • Diagnostic NF1 criteria: If ≥ 2 of following present
                                                    • > 6 café au lait spots measuring ≥ 5 mm in prepubertal & ≥ 15 mm in postpubertal patients
                                                    • ≥ 2 NFs or 1 plexiform NF (PNF)
                                                    • Axillary/inguinal freckling
                                                    • Visual pathway glioma
                                                    • ≥ Lisch nodules (optic hamartomas)
                                                    • Distinctive bony lesion
                                                      • Sphenoid wing dysplasia
                                                      • Thinning of long bones
                                                        • ± pseudoarthrosis
                                                    • 1st-degree relative with NF1
                                                  • Peripheral nerve sheath tumor (PNST) = schwannoma, NF, & PNF
                                                  • NFs: Localized, plexiform, & diffuse variants

                                                IMAGING

                                                • General Features

                                                  • CT Findings

                                                    • MR Findings

                                                      • Imaging Recommendations

                                                        DIFFERENTIAL DIAGNOSIS

                                                          PATHOLOGY

                                                          • General Features

                                                            • Staging, Grading, & Classification

                                                              • Gross Pathologic & Surgical Features

                                                                • Microscopic Features

                                                                  CLINICAL ISSUES

                                                                  • Presentation

                                                                    • Demographics

                                                                      • Natural History & Prognosis

                                                                        • Treatment

                                                                          DIAGNOSTIC CHECKLIST

                                                                          • Consider

                                                                            • Image Interpretation Pearls

                                                                              Selected References

                                                                              1. 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
                                                                              2. 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
                                                                              3. 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
                                                                              4. 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
                                                                              5. 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
                                                                              6. McCarville MB: What MRI can tell us about neurogenic tumors and rhabdomyosarcoma. Pediatr Radiol. 46(6):881-90, 2016
                                                                              7. Rad E et al: Neurofibromatosis type 1: fundamental insights into cell signalling and cancer. Semin Cell Dev Biol. 52:39-46, 2016
                                                                              8. 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
                                                                              9. Brems H et al: Mechanisms in the pathogenesis of malignant tumours in neurofibromatosis type 1. Lancet Oncol. 10(5):508-15, 2009
                                                                              10. 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
                                                                              11. Hassell DS et al: Imaging appearance of diffuse neurofibroma. AJR Am J Roentgenol. 190(3):582-8, 2008
                                                                              12. 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
                                                                              13. Son JM et al: Varying degrees of FDG uptake in multiple benign neurofibromas on PET/CT. Br J Radiol. 80(957):e222-6, 2007
                                                                              14. Ferner RE et al: Guidelines for the diagnosis and management of individuals with neurofibromatosis 1 (NF1). J Med Genet. 44(2):81-8, 2006
                                                                              15. Mautner VF et al: MRI growth patterns of plexiform neurofibromas in patients with neurofibromatosis type 1. Neuroradiology. 48(3):160-5, 2006
                                                                              16. Jacquemin C et al: Orbit deformities in craniofacial neurofibromatosis type 1. AJNR Am J Neuroradiol. 24(8):1678-82, 2003
                                                                              17. Jacquemin C et al: Reassessment of sphenoid dysplasia associated with neurofibromatosis type 1. AJNR Am J Neuroradiol. 23(4):644-8, 2002
                                                                              18. Fortman BJ et al: Neurofibromatosis type 1: a diagnostic mimicker at CT. Radiographics. 21(3):601-12, 2001
                                                                              19. 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