link
Bookmarks
Schwannomatosis
Surjith Vattoth, MD, FRCR
To access 4,300 diagnoses written by the world's leading experts in radiology, please log in or subscribe.Log inSubscribe
0
0
2
0

KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          • Clinical Issues

            • Diagnostic Checklist

              TERMINOLOGY

              • Abbreviations

                • Neurofibromatosis 1 (NF1)
                • Neurofibromatosis 2 (NF2)
              • Synonyms

                • Congenital neurilemmomatosis
              • Definitions

                • Schwannomatosis: Multiple schwannomas of peripheral nervous system without involvement of vestibular nerves
                • Presence of unilateral vestibular schwannoma (VS) or meningiomas does not exclude schwannomatosis

              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. 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
                                                3. Blakeley JO et al: Therapeutic advances for the tumors associated with neurofibromatosis type 1, type 2, and schwannomatosis. Neuro Oncol. 18(5):624-38, 2016
                                                4. Asai K et al: Familial schwannomatosis with a germline mutation of SMARCB1 in Japan. Brain Tumor Pathol. 32(3):216-220, 2015
                                                5. Ioannidis P et al: Expanding schwannomatosis phenotype. J Neurooncol. 122(3):607-9, 2015
                                                6. Smith MJ et al: Mutations in LZTR1 add to the complex heterogeneity of schwannomatosis. Neurology. 84(2):141-7, 2015
                                                7. Blakeley J et al: Clinical response to bevacizumab in schwannomatosis. Neurology. 83(21):1986-7, 2014
                                                8. Koontz NA et al: Schwannomatosis: the overlooked neurofibromatosis? AJR Am J Roentgenol. 200(6):W646-53, 2013
                                                9. 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
                                                10. Hulsebos TJ et al: SMARCB1/INI1 maternal germ line mosaicism in schwannomatosis. Clin Genet. 77(1):86-91, 2010
                                                11. 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
                                                12. Lu-Emerson C et al: The neurofibromatoses. Part 2: NF2 and schwannomatosis. Rev Neurol Dis. 6(3):E81-6, 2009
                                                13. Silk PS et al: Surgical approaches to vestibular schwannomas: what the radiologist needs to know. Radiographics. 29(7):1955-70, 2009
                                                14. Smith MJ et al: Identity analysis of schwannomatosis kindreds with recurrent constitutional SMARCB1 (INI1) alterations. Clin Genet. 75(5):501-2, 2009
                                                15. 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
                                                16. 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
                                                17. 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
                                                18. Hulsebos TJ et al: Germline mutation of INI1/SMARCB1 in familial schwannomatosis. Am J Hum Genet. 80(4):805-10, 2007
                                                19. Westhout FD et al: Recognizing schwannomatosis and distinguishing it from neurofibromatosis type 1 or 2. J Spinal Disord Tech. 20(4):329-32, 2007
                                                20. 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
                                                21. Baser ME et al: Increasing the specificity of diagnostic criteria for schwannomatosis. Neurology. 66(5):730-2, 2006
                                                22. Hanemann CO et al: News on the genetics, epidemiology, medical care and translational research of Schwannomas. J Neurol. 253(12):1533-41, 2006
                                                23. Wippold FJ 2nd et al: Neuropathology for the neuroradiologist: palisades and pseudopalisades. AJNR Am J Neuroradiol. 27(10):2037-41, 2006
                                                24. 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
                                                25. MacCollin M et al: Diagnostic criteria for schwannomatosis. Neurology. 64(11):1838-45, 2005
                                                26. Mrugala MM et al: Peripheral and cranial nerve sheath tumors. Curr Opin Neurol. 18(5):604-10, 2005
                                                27. Beaman FD et al: Schwannoma: radiologic-pathologic correlation. Radiographics. 24(5):1477-81, 2004
                                                28. 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
                                                29. Isobe K et al: Imaging of ancient schwannoma. AJR Am J Roentgenol. 183(2):331-6, 2004
                                                30. Kaufman DL et al: Somatic instability of the NF2 gene in schwannomatosis. Arch Neurol. 60(9):1317-20, 2003
                                                31. MacCollin M et al: Familial schwannomatosis: exclusion of the NF2 locus as the germline event. Neurology. 60(12):1968-74, 2003
                                                32. Baser ME et al: Predictors of the risk of mortality in neurofibromatosis 2. Am J Hum Genet. 71(4):715-23, 2002
                                                33. Gomez-Brouchet A et al: Vestibular schwannomas: correlations between magnetic resonance imaging and histopathologic appearance. Otol Neurotol. 22(1):79-86, 2001
                                                34. 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
                                                35. Weber AL et al: Neurogenic tumors of the neck. Radiol Clin North Am. 38(5):1077-90, 2000
                                                36. Jacoby LB et al: Molecular analysis of the NF2 tumor-suppressor gene in schwannomatosis. Am J Hum Genet. 61(6):1293-302, 1997
                                                37. Dhamija R et al: Schwannomatosis 1993
                                                Related Anatomy
                                                Loading...
                                                Related Differential Diagnoses
                                                Loading...
                                                References
                                                Tables

                                                Tables

                                                KEY FACTS

                                                • Terminology

                                                  • Imaging

                                                    • Top Differential Diagnoses

                                                      • Pathology

                                                        • Clinical Issues

                                                          • Diagnostic Checklist

                                                            TERMINOLOGY

                                                            • Abbreviations

                                                              • Neurofibromatosis 1 (NF1)
                                                              • Neurofibromatosis 2 (NF2)
                                                            • Synonyms

                                                              • Congenital neurilemmomatosis
                                                            • Definitions

                                                              • Schwannomatosis: Multiple schwannomas of peripheral nervous system without involvement of vestibular nerves
                                                              • Presence of unilateral vestibular schwannoma (VS) or meningiomas does not exclude schwannomatosis

                                                            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. 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
                                                                                              3. Blakeley JO et al: Therapeutic advances for the tumors associated with neurofibromatosis type 1, type 2, and schwannomatosis. Neuro Oncol. 18(5):624-38, 2016
                                                                                              4. Asai K et al: Familial schwannomatosis with a germline mutation of SMARCB1 in Japan. Brain Tumor Pathol. 32(3):216-220, 2015
                                                                                              5. Ioannidis P et al: Expanding schwannomatosis phenotype. J Neurooncol. 122(3):607-9, 2015
                                                                                              6. Smith MJ et al: Mutations in LZTR1 add to the complex heterogeneity of schwannomatosis. Neurology. 84(2):141-7, 2015
                                                                                              7. Blakeley J et al: Clinical response to bevacizumab in schwannomatosis. Neurology. 83(21):1986-7, 2014
                                                                                              8. Koontz NA et al: Schwannomatosis: the overlooked neurofibromatosis? AJR Am J Roentgenol. 200(6):W646-53, 2013
                                                                                              9. 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
                                                                                              10. Hulsebos TJ et al: SMARCB1/INI1 maternal germ line mosaicism in schwannomatosis. Clin Genet. 77(1):86-91, 2010
                                                                                              11. 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
                                                                                              12. Lu-Emerson C et al: The neurofibromatoses. Part 2: NF2 and schwannomatosis. Rev Neurol Dis. 6(3):E81-6, 2009
                                                                                              13. Silk PS et al: Surgical approaches to vestibular schwannomas: what the radiologist needs to know. Radiographics. 29(7):1955-70, 2009
                                                                                              14. Smith MJ et al: Identity analysis of schwannomatosis kindreds with recurrent constitutional SMARCB1 (INI1) alterations. Clin Genet. 75(5):501-2, 2009
                                                                                              15. 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
                                                                                              16. 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
                                                                                              17. 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
                                                                                              18. Hulsebos TJ et al: Germline mutation of INI1/SMARCB1 in familial schwannomatosis. Am J Hum Genet. 80(4):805-10, 2007
                                                                                              19. Westhout FD et al: Recognizing schwannomatosis and distinguishing it from neurofibromatosis type 1 or 2. J Spinal Disord Tech. 20(4):329-32, 2007
                                                                                              20. 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
                                                                                              21. Baser ME et al: Increasing the specificity of diagnostic criteria for schwannomatosis. Neurology. 66(5):730-2, 2006
                                                                                              22. Hanemann CO et al: News on the genetics, epidemiology, medical care and translational research of Schwannomas. J Neurol. 253(12):1533-41, 2006
                                                                                              23. Wippold FJ 2nd et al: Neuropathology for the neuroradiologist: palisades and pseudopalisades. AJNR Am J Neuroradiol. 27(10):2037-41, 2006
                                                                                              24. 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
                                                                                              25. MacCollin M et al: Diagnostic criteria for schwannomatosis. Neurology. 64(11):1838-45, 2005
                                                                                              26. Mrugala MM et al: Peripheral and cranial nerve sheath tumors. Curr Opin Neurol. 18(5):604-10, 2005
                                                                                              27. Beaman FD et al: Schwannoma: radiologic-pathologic correlation. Radiographics. 24(5):1477-81, 2004
                                                                                              28. 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
                                                                                              29. Isobe K et al: Imaging of ancient schwannoma. AJR Am J Roentgenol. 183(2):331-6, 2004
                                                                                              30. Kaufman DL et al: Somatic instability of the NF2 gene in schwannomatosis. Arch Neurol. 60(9):1317-20, 2003
                                                                                              31. MacCollin M et al: Familial schwannomatosis: exclusion of the NF2 locus as the germline event. Neurology. 60(12):1968-74, 2003
                                                                                              32. Baser ME et al: Predictors of the risk of mortality in neurofibromatosis 2. Am J Hum Genet. 71(4):715-23, 2002
                                                                                              33. Gomez-Brouchet A et al: Vestibular schwannomas: correlations between magnetic resonance imaging and histopathologic appearance. Otol Neurotol. 22(1):79-86, 2001
                                                                                              34. 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
                                                                                              35. Weber AL et al: Neurogenic tumors of the neck. Radiol Clin North Am. 38(5):1077-90, 2000
                                                                                              36. Jacoby LB et al: Molecular analysis of the NF2 tumor-suppressor gene in schwannomatosis. Am J Hum Genet. 61(6):1293-302, 1997
                                                                                              37. Dhamija R et al: Schwannomatosis 1993