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Schwannomatosis
Kevin R. Moore, MD; Nicholas A. Koontz, MD
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KEY FACTS

  • Imaging

    • Top Differential Diagnoses

      • Pathology

        • Clinical Issues

          • Diagnostic Checklist

            TERMINOLOGY

            • Abbreviations

              • Neurofibromatosis type 1 (NF1)
              • Neurofibromatosis type 2 (NF2)
              • Nuclear-free zone (NFZ)
              • Internal auditory canal (IAC)
            • Synonyms

              • Congenital neurilemmomatosis
            • Definitions

              • Schwannomatosis: Multiple schwannomas of peripheral nervous system without involvement of vestibular nerves

            IMAGING

            • General Features

              • CT Findings

                • MR Findings

                  • Ultrasonographic 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

                                            • Reporting Tips

                                              Selected References

                                              1. Alaidarous A et al: Segmental schwannomatosis: characteristics in 12 patients. Orphanet J Rare Dis. 14(1):207, 2019
                                              2. Evans DG et al: Schwannomatosis: a genetic and epidemiological study. J Neurol Neurosurg Psychiatry. 89(11):1215-9, 2018
                                              3. Kehrer-Sawatzki H et al: The molecular pathogenesis of schwannomatosis, a paradigm for the co-involvement of multiple tumour suppressor genes in tumorigenesis. Hum Genet. 136(2):129-48, 2017
                                              4. Ahlawat S et al: Current whole-body MRI applications in the neurofibromatoses: NF1, NF2, and schwannomatosis. Neurology. 87(7 Suppl 1):S31-9, 2016
                                              5. Asai K et al: Familial schwannomatosis with a germline mutation of SMARCB1 in Japan. Brain Tumor Pathol. 32(3):216-20, 2015
                                              6. Ioannidis P et al: Expanding schwannomatosis phenotype. J Neurooncol. 122(3):607-9, 2015
                                              7. Koontz NA et al: Schwannomatosis: the overlooked neurofibromatosis? AJR Am J Roentgenol. 200(6):W646-53, 2013
                                              8. Plotkin SR et al: Update from the 2011 International Schwannomatosis Workshop: from genetics to diagnostic criteria. Am J Med Genet A. 161(3):405-16, 2013
                                              9. Hulsebos TJ et al: SMARCB1/INI1 maternal germ line mosaicism in schwannomatosis. Clin Genet. 77(1):86-91, 2010
                                              10. Cai W et al: Tumor burden in patients with neurofibromatosis types 1 and 2 and schwannomatosis: determination on whole-body MR images. Radiology. 250(3):665-73, 2009
                                              11. Lu-Emerson C et al: The neurofibromatoses. Part 2: NF2 and schwannomatosis. Rev Neurol Dis. 6(3):E81-6, 2009
                                              12. Silk PS et al: Surgical approaches to vestibular schwannomas: what the radiologist needs to know. Radiographics. 29(7):1955-70, 2009
                                              13. Smith MJ et al: Identity analysis of schwannomatosis kindreds with recurrent constitutional SMARCB1 (INI1) alterations. Clin Genet. 75(5):501-2, 2009
                                              14. Hadfield KD et al: Molecular characterisation of SMARCB1 and NF2 in familial and sporadic schwannomatosis. J Med Genet. 2008 Jun;45(6):332-9. Epub 2008 Feb 19. Erratum in: J Med Genet. 45(9):608, 2008
                                              15. Patil S et al: Immunohistochemical analysis supports a role for INI1/SMARCB1 in hereditary forms of schwannomas, but not in solitary, sporadic schwannomas. Brain Pathol. 18(4):517-9, 2008
                                              16. Sestini R et al: Evidence of a four-hit mechanism involving SMARCB1 and NF2 in schwannomatosis-associated schwannomas. Hum Mutat. 29(2):227-31, 2008
                                              17. Hulsebos TJ et al: Germline mutation of INI1/SMARCB1 in familial schwannomatosis. Am J Hum Genet. 80(4):805-10, 2007
                                              18. Westhout FD et al: Recognizing schwannomatosis and distinguishing it from neurofibromatosis type 1 or 2. J Spinal Disord Tech. 20(4):329-32, 2007
                                              19. Wippold FJ 2nd et al: Neuropathology for the neuroradiologist: Antoni A and Antoni B tissue patterns. AJNR Am J Neuroradiol. 28(9):1633-8, 2007
                                              20. Baser ME et al: Increasing the specificity of diagnostic criteria for schwannomatosis. Neurology. 66(5):730-2, 2006
                                              21. Hanemann CO et al: News on the genetics, epidemiology, medical care and translational research of Schwannomas. J Neurol. 253(12):1533-41, 2006
                                              22. Wippold FJ 2nd et al: Neuropathology for the neuroradiologist: palisades and pseudopalisades. AJNR Am J Neuroradiol. 27(10):2037-41, 2006
                                              23. Evans DG et al: Incidence of vestibular schwannoma and neurofibromatosis 2 in the North West of England over a 10-year period: higher incidence than previously thought. Otol Neurotol. 26(1):93-7, 2005
                                              24. MacCollin M et al: Diagnostic criteria for schwannomatosis. Neurology. 64(11):1838-45, 2005
                                              25. Mrugala MM et al: Peripheral and cranial nerve sheath tumors. Curr Opin Neurol. 18(5):604-10, 2005
                                              26. Beaman FD et al: Schwannoma: radiologic-pathologic correlation. Radiographics. 24(5):1477-81, 2004
                                              27. Huang JH et al: Management of patients with schwannomatosis: report of six cases and review of the literature. Surg Neurol. 62(4):353-61; discussion 361, 2004
                                              28. Isobe K et al: Imaging of ancient schwannoma. AJR Am J Roentgenol. 183(2):331-6, 2004
                                              29. Kaufman DL et al: Somatic instability of the NF2 gene in schwannomatosis. Arch Neurol. 60(9):1317-20, 2003
                                              30. MacCollin M et al: Familial schwannomatosis: exclusion of the NF2 locus as the germline event. Neurology. 60(12):1968-74, 2003
                                              31. Baser ME et al: Predictors of the risk of mortality in neurofibromatosis 2. Am J Hum Genet. 71(4):715-23, 2002
                                              32. Gomez-Brouchet A et al: Vestibular schwannomas: correlations between magnetic resonance imaging and histopathologic appearance. Otol Neurotol. 22(1):79-86, 2001
                                              33. 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
                                              34. Weber AL et al: Neurogenic tumors of the neck. Radiol Clin North Am. 38(5):1077-90, 2000
                                              35. Jacoby LB et al: Molecular analysis of the NF2 tumor-suppressor gene in schwannomatosis. Am J Hum Genet. 61(6):1293-302, 1997
                                              Related Anatomy
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                                              Related Differential Diagnoses
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                                              References
                                              Tables

                                              Tables

                                              KEY FACTS

                                              • Imaging

                                                • Top Differential Diagnoses

                                                  • Pathology

                                                    • Clinical Issues

                                                      • Diagnostic Checklist

                                                        TERMINOLOGY

                                                        • Abbreviations

                                                          • Neurofibromatosis type 1 (NF1)
                                                          • Neurofibromatosis type 2 (NF2)
                                                          • Nuclear-free zone (NFZ)
                                                          • Internal auditory canal (IAC)
                                                        • Synonyms

                                                          • Congenital neurilemmomatosis
                                                        • Definitions

                                                          • Schwannomatosis: Multiple schwannomas of peripheral nervous system without involvement of vestibular nerves

                                                        IMAGING

                                                        • General Features

                                                          • CT Findings

                                                            • MR Findings

                                                              • Ultrasonographic 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

                                                                                        • Reporting Tips

                                                                                          Selected References

                                                                                          1. Alaidarous A et al: Segmental schwannomatosis: characteristics in 12 patients. Orphanet J Rare Dis. 14(1):207, 2019
                                                                                          2. Evans DG et al: Schwannomatosis: a genetic and epidemiological study. J Neurol Neurosurg Psychiatry. 89(11):1215-9, 2018
                                                                                          3. Kehrer-Sawatzki H et al: The molecular pathogenesis of schwannomatosis, a paradigm for the co-involvement of multiple tumour suppressor genes in tumorigenesis. Hum Genet. 136(2):129-48, 2017
                                                                                          4. Ahlawat S et al: Current whole-body MRI applications in the neurofibromatoses: NF1, NF2, and schwannomatosis. Neurology. 87(7 Suppl 1):S31-9, 2016
                                                                                          5. Asai K et al: Familial schwannomatosis with a germline mutation of SMARCB1 in Japan. Brain Tumor Pathol. 32(3):216-20, 2015
                                                                                          6. Ioannidis P et al: Expanding schwannomatosis phenotype. J Neurooncol. 122(3):607-9, 2015
                                                                                          7. Koontz NA et al: Schwannomatosis: the overlooked neurofibromatosis? AJR Am J Roentgenol. 200(6):W646-53, 2013
                                                                                          8. Plotkin SR et al: Update from the 2011 International Schwannomatosis Workshop: from genetics to diagnostic criteria. Am J Med Genet A. 161(3):405-16, 2013
                                                                                          9. Hulsebos TJ et al: SMARCB1/INI1 maternal germ line mosaicism in schwannomatosis. Clin Genet. 77(1):86-91, 2010
                                                                                          10. Cai W et al: Tumor burden in patients with neurofibromatosis types 1 and 2 and schwannomatosis: determination on whole-body MR images. Radiology. 250(3):665-73, 2009
                                                                                          11. Lu-Emerson C et al: The neurofibromatoses. Part 2: NF2 and schwannomatosis. Rev Neurol Dis. 6(3):E81-6, 2009
                                                                                          12. Silk PS et al: Surgical approaches to vestibular schwannomas: what the radiologist needs to know. Radiographics. 29(7):1955-70, 2009
                                                                                          13. Smith MJ et al: Identity analysis of schwannomatosis kindreds with recurrent constitutional SMARCB1 (INI1) alterations. Clin Genet. 75(5):501-2, 2009
                                                                                          14. Hadfield KD et al: Molecular characterisation of SMARCB1 and NF2 in familial and sporadic schwannomatosis. J Med Genet. 2008 Jun;45(6):332-9. Epub 2008 Feb 19. Erratum in: J Med Genet. 45(9):608, 2008
                                                                                          15. Patil S et al: Immunohistochemical analysis supports a role for INI1/SMARCB1 in hereditary forms of schwannomas, but not in solitary, sporadic schwannomas. Brain Pathol. 18(4):517-9, 2008
                                                                                          16. Sestini R et al: Evidence of a four-hit mechanism involving SMARCB1 and NF2 in schwannomatosis-associated schwannomas. Hum Mutat. 29(2):227-31, 2008
                                                                                          17. Hulsebos TJ et al: Germline mutation of INI1/SMARCB1 in familial schwannomatosis. Am J Hum Genet. 80(4):805-10, 2007
                                                                                          18. Westhout FD et al: Recognizing schwannomatosis and distinguishing it from neurofibromatosis type 1 or 2. J Spinal Disord Tech. 20(4):329-32, 2007
                                                                                          19. Wippold FJ 2nd et al: Neuropathology for the neuroradiologist: Antoni A and Antoni B tissue patterns. AJNR Am J Neuroradiol. 28(9):1633-8, 2007
                                                                                          20. Baser ME et al: Increasing the specificity of diagnostic criteria for schwannomatosis. Neurology. 66(5):730-2, 2006
                                                                                          21. Hanemann CO et al: News on the genetics, epidemiology, medical care and translational research of Schwannomas. J Neurol. 253(12):1533-41, 2006
                                                                                          22. Wippold FJ 2nd et al: Neuropathology for the neuroradiologist: palisades and pseudopalisades. AJNR Am J Neuroradiol. 27(10):2037-41, 2006
                                                                                          23. Evans DG et al: Incidence of vestibular schwannoma and neurofibromatosis 2 in the North West of England over a 10-year period: higher incidence than previously thought. Otol Neurotol. 26(1):93-7, 2005
                                                                                          24. MacCollin M et al: Diagnostic criteria for schwannomatosis. Neurology. 64(11):1838-45, 2005
                                                                                          25. Mrugala MM et al: Peripheral and cranial nerve sheath tumors. Curr Opin Neurol. 18(5):604-10, 2005
                                                                                          26. Beaman FD et al: Schwannoma: radiologic-pathologic correlation. Radiographics. 24(5):1477-81, 2004
                                                                                          27. Huang JH et al: Management of patients with schwannomatosis: report of six cases and review of the literature. Surg Neurol. 62(4):353-61; discussion 361, 2004
                                                                                          28. Isobe K et al: Imaging of ancient schwannoma. AJR Am J Roentgenol. 183(2):331-6, 2004
                                                                                          29. Kaufman DL et al: Somatic instability of the NF2 gene in schwannomatosis. Arch Neurol. 60(9):1317-20, 2003
                                                                                          30. MacCollin M et al: Familial schwannomatosis: exclusion of the NF2 locus as the germline event. Neurology. 60(12):1968-74, 2003
                                                                                          31. Baser ME et al: Predictors of the risk of mortality in neurofibromatosis 2. Am J Hum Genet. 71(4):715-23, 2002
                                                                                          32. Gomez-Brouchet A et al: Vestibular schwannomas: correlations between magnetic resonance imaging and histopathologic appearance. Otol Neurotol. 22(1):79-86, 2001
                                                                                          33. 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
                                                                                          34. Weber AL et al: Neurogenic tumors of the neck. Radiol Clin North Am. 38(5):1077-90, 2000
                                                                                          35. Jacoby LB et al: Molecular analysis of the NF2 tumor-suppressor gene in schwannomatosis. Am J Hum Genet. 61(6):1293-302, 1997