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Neurofibroma
Nicholas A. Koontz, MD; John H. Rees, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Clinical Issues

          • Diagnostic Checklist

            TERMINOLOGY

            • Abbreviations

              • Neurofibroma (NF)
            • Definitions

              • Plexiform neurofibroma (PNF): Infiltrative extraneural tumor
                • Occurs exclusively in patients with NF1
              • Solitary neurofibroma (SNF): Round/ovoid subcutaneous mass
                • Not associated with NF1

            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

                                • Natural History & Prognosis

                                  • Treatment

                                    DIAGNOSTIC CHECKLIST

                                    • Consider

                                      Selected References

                                      1. Agrawal K et al: Incidental Neurofibroma on 18F-Fluorocholine PET/MR. Clin Nucl Med. ePub, 2015
                                      2. Riccardi VM: Ketotifen suppression of NF1 neurofibroma growth over 30 years. Am J Med Genet A. ePub, 2015
                                      3. Abramowicz A et al: Neurofibromin in neurofibromatosis type 1 - mutations in NF1gene as a cause of disease. Dev Period Med. 18(3):297-306, 2014
                                      4. Ahlawat S et al: Magnetic resonance neurography of peripheral nerve tumors and tumorlike conditions. Neuroimaging Clin N Am. 24(1):171-92, 2014
                                      5. Hirbe AC et al: Neurofibromatosis type 1: a multidisciplinary approach to care. Lancet Neurol. 13(8):834-43, 2014
                                      6. Hirbe AC et al: BRAFV600E mutation in sporadic and neurofibromatosis type 1-related malignant peripheral nerve sheath tumors. Neuro Oncol. 16(3):466-7, 2014
                                      7. Evans HL: Sporadic superficial diffuse neurofibromas with repeated local recurrence over many years and a tendency toward malignant change: a report of 3 cases. Am J Surg Pathol. 37(7):987-94, 2013
                                      8. Canelas MM et al: Lipomatous neurofibroma associated with segmental neurofibromatosis. J Cutan Pathol. 37(6):705-6, 2010
                                      9. Dimou J et al: Recurrent malignant peripheral nerve sheath tumour in a patient with neurofibromatosis Type 1: a case report. J Clin Neurosci. 16(9):1221-3, 2009
                                      10. Geller M et al: Plexiform neurofibroma in the ear canal of a patient with type I neurofibromatosis. Braz J Otorhinolaryngol. 75(1):158, 2009
                                      11. Gerber PA et al: Neurofibromatosis. Eur J Med Res. 14(3):102-5, 2009
                                      12. Greig AV et al: Giant hemifacial plexiform neurofibroma arising from trigeminal ganglion. J Craniofac Surg. 20(3):833-6, 2009
                                      13. Jhas S et al: An intracranial leiomyosarcoma in a child with neurofibromatosis type 1. Can J Neurol Sci. 36(4):491-5, 2009
                                      14. Jokinen CH et al: Atypical neurofibroma of the skin and subcutaneous tissue: clinicopathologic analysis of 11 cases. J Cutan Pathol. Epub ahead of print, 2009
                                      15. Le LQ et al: Cell of origin and microenvironment contribution for NF1-associated dermal neurofibromas. Cell Stem Cell. 4(5):453-63, 2009
                                      16. Lu-Emerson C et al: The Neurofibromatoses. Part 1: NF1. Rev Neurol Dis. 6(2):E47-53, 2009
                                      17. Mantripragada KK et al: Genome-wide high-resolution analysis of DNA copy number alterations in NF1-associated malignant peripheral nerve sheath tumors using 32K BAC array. Genes Chromosomes Cancer. 48(10):897-907, 2009
                                      18. Morales J et al: Glaucoma and globe enlargement associated with neurofibromatosis type 1. Ophthalmology. 116(9):1725-30, 2009
                                      19. Morris ZS et al: The neurofibroma cell of origin: SKPs expand the playing field. Cell Stem Cell. 4(5):371-2, 2009
                                      20. Parrinello S et al: Neurofibroma development in NF1--insights into tumour initiation. Trends Cell Biol. 19(8):395-403, 2009
                                      21. Parsons CM et al: Surgical management of neurofibromatosis. Surg Oncol Clin N Am. 18(1):175-96, x, 2009
                                      22. Rallis E et al: Giant plexiform neurofibroma in a patient with neurofibromatosis type I. Dermatol Online J. 15(5):7, 2009
                                      23. Riccardi VM: Diagnostic and management considerations posed by multiple café au lait spots. Arch Dermatol. 145(8):929-30, 2009
                                      24. Santaolalla F et al: Severe exophthalmos in trigeminal plexiform neurofibroma involving the orbit and the infratemporal fossa. J Clin Neurosci. 16(7):970-2, 2009
                                      25. Scheithauer BW et al: Malignant peripheral nerve sheath tumors of cranial nerves and intracranial contents: a clinicopathologic study of 17 cases. Am J Surg Pathol. 33(3):325-38, 2009
                                      26. Sehgal VN et al: Evaluation of plexiform neurofibroma in neurofibromatosis type 1 in 18 family members of 3 generations: ultrasonography and magnetic resonance imaging a diagnostic supplement. Int J Dermatol. 48(3):275-9, 2009
                                      27. Sehgal VN et al: Plexiform neurofibromas in neurofibromatosis type 1. Int J Dermatol. 48(9):971-4, 2009
                                      28. Thomas C et al: Cutaneous malignant peripheral nerve sheath tumors. J Cutan Pathol. 36(8):896-900, 2009
                                      29. Yang L et al: An unusual presentation of a solitary benign giant neurofibroma. Case report. J Neurosurg Spine. 11(1):49-52, 2009
                                      30. Huson S: Neurofibromatosis: emerging phenotypes, mechanisms and management. Clin Med. 8(6):611-7, 2008
                                      31. MacCollin M et al: Diagnostic criteria for schwannomatosis. Neurology. 64(11):1838-45, 2005
                                      32. Tucker T et al: Association between benign and malignant peripheral nerve sheath tumors in NF1. Neurology. 65(2):205-11, 2005
                                      33. Reynolds DL Jr et al: Sonographic characteristics of peripheral nerve sheath tumors. AJR Am J Roentgenol. 182(3):741-4, 2004
                                      34. Friedrich RE et al: Growth type of plexiform neurofibromas in NF1 determined on magnetic resonance images. Anticancer Res. 23(2A):949-52, 2003
                                      35. Poussaint TY et al: Interobserver reproducibility of volumetric MR imaging measurements of plexiform neurofibromas. AJR Am J Roentgenol. 180(2):419-23, 2003
                                      36. Woodruff JM et al: Neurofibroma. In Kleihues P et al: Tumours of the Nervous System. Lyon: IARC Press. 167-8, 2000
                                      37. Gutmann DH et al: The diagnostic evaluation and multidisciplinary management of neurofibromatosis 1 and neurofibromatosis 2. JAMA. 278(1):51-7, 1997
                                      Related Anatomy
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                                      Related Differential Diagnoses
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                                      References
                                      Tables

                                      Tables

                                      KEY FACTS

                                      • Terminology

                                        • Imaging

                                          • Top Differential Diagnoses

                                            • Clinical Issues

                                              • Diagnostic Checklist

                                                TERMINOLOGY

                                                • Abbreviations

                                                  • Neurofibroma (NF)
                                                • Definitions

                                                  • Plexiform neurofibroma (PNF): Infiltrative extraneural tumor
                                                    • Occurs exclusively in patients with NF1
                                                  • Solitary neurofibroma (SNF): Round/ovoid subcutaneous mass
                                                    • Not associated with NF1

                                                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

                                                                    • Natural History & Prognosis

                                                                      • Treatment

                                                                        DIAGNOSTIC CHECKLIST

                                                                        • Consider

                                                                          Selected References

                                                                          1. Agrawal K et al: Incidental Neurofibroma on 18F-Fluorocholine PET/MR. Clin Nucl Med. ePub, 2015
                                                                          2. Riccardi VM: Ketotifen suppression of NF1 neurofibroma growth over 30 years. Am J Med Genet A. ePub, 2015
                                                                          3. Abramowicz A et al: Neurofibromin in neurofibromatosis type 1 - mutations in NF1gene as a cause of disease. Dev Period Med. 18(3):297-306, 2014
                                                                          4. Ahlawat S et al: Magnetic resonance neurography of peripheral nerve tumors and tumorlike conditions. Neuroimaging Clin N Am. 24(1):171-92, 2014
                                                                          5. Hirbe AC et al: Neurofibromatosis type 1: a multidisciplinary approach to care. Lancet Neurol. 13(8):834-43, 2014
                                                                          6. Hirbe AC et al: BRAFV600E mutation in sporadic and neurofibromatosis type 1-related malignant peripheral nerve sheath tumors. Neuro Oncol. 16(3):466-7, 2014
                                                                          7. Evans HL: Sporadic superficial diffuse neurofibromas with repeated local recurrence over many years and a tendency toward malignant change: a report of 3 cases. Am J Surg Pathol. 37(7):987-94, 2013
                                                                          8. Canelas MM et al: Lipomatous neurofibroma associated with segmental neurofibromatosis. J Cutan Pathol. 37(6):705-6, 2010
                                                                          9. Dimou J et al: Recurrent malignant peripheral nerve sheath tumour in a patient with neurofibromatosis Type 1: a case report. J Clin Neurosci. 16(9):1221-3, 2009
                                                                          10. Geller M et al: Plexiform neurofibroma in the ear canal of a patient with type I neurofibromatosis. Braz J Otorhinolaryngol. 75(1):158, 2009
                                                                          11. Gerber PA et al: Neurofibromatosis. Eur J Med Res. 14(3):102-5, 2009
                                                                          12. Greig AV et al: Giant hemifacial plexiform neurofibroma arising from trigeminal ganglion. J Craniofac Surg. 20(3):833-6, 2009
                                                                          13. Jhas S et al: An intracranial leiomyosarcoma in a child with neurofibromatosis type 1. Can J Neurol Sci. 36(4):491-5, 2009
                                                                          14. Jokinen CH et al: Atypical neurofibroma of the skin and subcutaneous tissue: clinicopathologic analysis of 11 cases. J Cutan Pathol. Epub ahead of print, 2009
                                                                          15. Le LQ et al: Cell of origin and microenvironment contribution for NF1-associated dermal neurofibromas. Cell Stem Cell. 4(5):453-63, 2009
                                                                          16. Lu-Emerson C et al: The Neurofibromatoses. Part 1: NF1. Rev Neurol Dis. 6(2):E47-53, 2009
                                                                          17. Mantripragada KK et al: Genome-wide high-resolution analysis of DNA copy number alterations in NF1-associated malignant peripheral nerve sheath tumors using 32K BAC array. Genes Chromosomes Cancer. 48(10):897-907, 2009
                                                                          18. Morales J et al: Glaucoma and globe enlargement associated with neurofibromatosis type 1. Ophthalmology. 116(9):1725-30, 2009
                                                                          19. Morris ZS et al: The neurofibroma cell of origin: SKPs expand the playing field. Cell Stem Cell. 4(5):371-2, 2009
                                                                          20. Parrinello S et al: Neurofibroma development in NF1--insights into tumour initiation. Trends Cell Biol. 19(8):395-403, 2009
                                                                          21. Parsons CM et al: Surgical management of neurofibromatosis. Surg Oncol Clin N Am. 18(1):175-96, x, 2009
                                                                          22. Rallis E et al: Giant plexiform neurofibroma in a patient with neurofibromatosis type I. Dermatol Online J. 15(5):7, 2009
                                                                          23. Riccardi VM: Diagnostic and management considerations posed by multiple café au lait spots. Arch Dermatol. 145(8):929-30, 2009
                                                                          24. Santaolalla F et al: Severe exophthalmos in trigeminal plexiform neurofibroma involving the orbit and the infratemporal fossa. J Clin Neurosci. 16(7):970-2, 2009
                                                                          25. Scheithauer BW et al: Malignant peripheral nerve sheath tumors of cranial nerves and intracranial contents: a clinicopathologic study of 17 cases. Am J Surg Pathol. 33(3):325-38, 2009
                                                                          26. Sehgal VN et al: Evaluation of plexiform neurofibroma in neurofibromatosis type 1 in 18 family members of 3 generations: ultrasonography and magnetic resonance imaging a diagnostic supplement. Int J Dermatol. 48(3):275-9, 2009
                                                                          27. Sehgal VN et al: Plexiform neurofibromas in neurofibromatosis type 1. Int J Dermatol. 48(9):971-4, 2009
                                                                          28. Thomas C et al: Cutaneous malignant peripheral nerve sheath tumors. J Cutan Pathol. 36(8):896-900, 2009
                                                                          29. Yang L et al: An unusual presentation of a solitary benign giant neurofibroma. Case report. J Neurosurg Spine. 11(1):49-52, 2009
                                                                          30. Huson S: Neurofibromatosis: emerging phenotypes, mechanisms and management. Clin Med. 8(6):611-7, 2008
                                                                          31. MacCollin M et al: Diagnostic criteria for schwannomatosis. Neurology. 64(11):1838-45, 2005
                                                                          32. Tucker T et al: Association between benign and malignant peripheral nerve sheath tumors in NF1. Neurology. 65(2):205-11, 2005
                                                                          33. Reynolds DL Jr et al: Sonographic characteristics of peripheral nerve sheath tumors. AJR Am J Roentgenol. 182(3):741-4, 2004
                                                                          34. Friedrich RE et al: Growth type of plexiform neurofibromas in NF1 determined on magnetic resonance images. Anticancer Res. 23(2A):949-52, 2003
                                                                          35. Poussaint TY et al: Interobserver reproducibility of volumetric MR imaging measurements of plexiform neurofibromas. AJR Am J Roentgenol. 180(2):419-23, 2003
                                                                          36. Woodruff JM et al: Neurofibroma. In Kleihues P et al: Tumours of the Nervous System. Lyon: IARC Press. 167-8, 2000
                                                                          37. Gutmann DH et al: The diagnostic evaluation and multidisciplinary management of neurofibromatosis 1 and neurofibromatosis 2. JAMA. 278(1):51-7, 1997