Bookmarks
KEY FACTS
Imaging
Top Differential Diagnoses
Pathology
Clinical Issues
Diagnostic Checklist
TERMINOLOGY
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
- Abdel Razek AAK et al: Peripheral nerve sheath tumors of head and neck: imaging-based review of World Health Organization Classification. J Comput Assist Tomogr. 44(6):928-40, 2020
- Radtke HB et al: Genetic counseling for neurofibromatosis 1, neurofibromatosis 2, and schwannomatosis-practice resource of the national society of genetic counselors. J Genet Couns. 29(5):692-714, 2020
- Schraepen C et al: What to know about schwannomatosis: a literature review. Br J Neurosurg. 1-4, 2020
- 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
- Kresak JL et al: Neurofibromatosis: a review of NF1, NF2, and schwannomatosis. J Pediatr Genet. 5(2):98-104, 2016
- Asai K et al: Familial schwannomatosis with a germline mutation of SMARCB1 in Japan. Brain Tumor Pathol. 32(3):216-20, 2015
- Ioannidis P et al: Expanding schwannomatosis phenotype. J Neurooncol. 122(3):607-9, 2015
- Smith MJ et al: Mutations in LZTR1 add to the complex heterogeneity of schwannomatosis. Neurology. 84(2):141-7, 2015
- Koontz NA et al: Schwannomatosis: the overlooked neurofibromatosis? AJR Am J Roentgenol. 200(6):W646-53, 2013
- 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
- Hulsebos TJ et al: SMARCB1/INI1 maternal germ line mosaicism in schwannomatosis. Clin Genet. 77(1):86-91, 2010
- 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
- Lu-Emerson C et al: The neurofibromatoses. Part 2: NF2 and schwannomatosis. Rev Neurol Dis. 6(3):E81-6, 2009
- Silk PS et al: Surgical approaches to vestibular schwannomas: what the radiologist needs to know. Radiographics. 29(7):1955-70, 2009
- Smith MJ et al: Identity analysis of schwannomatosis kindreds with recurrent constitutional SMARCB1 (INI1) alterations. Clin Genet. 75(5):501-2, 2009
- 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
- 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
- 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
- Hulsebos TJ et al: Germline mutation of INI1/SMARCB1 in familial schwannomatosis. Am J Hum Genet. 80(4):805-10, 2007
- Westhout FD et al: Recognizing schwannomatosis and distinguishing it from neurofibromatosis type 1 or 2. J Spinal Disord Tech. 20(4):329-32, 2007
- 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
- Baser ME et al: Increasing the specificity of diagnostic criteria for schwannomatosis. Neurology. 66(5):730-2, 2006
- Hanemann CO et al: News on the genetics, epidemiology, medical care and translational research of Schwannomas. J Neurol. 253(12):1533-41, 2006
- Wippold FJ 2nd et al: Neuropathology for the neuroradiologist: palisades and pseudopalisades. AJNR Am J Neuroradiol. 27(10):2037-41, 2006
- 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
- MacCollin M et al: Diagnostic criteria for schwannomatosis. Neurology. 64(11):1838-45, 2005
- Mrugala MM et al: Peripheral and cranial nerve sheath tumors. Curr Opin Neurol. 18(5):604-10, 2005
- Beaman FD et al: Schwannoma: radiologic-pathologic correlation. Radiographics. 24(5):1477-81, 2004
- 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
- Isobe K et al: Imaging of ancient schwannoma. AJR Am J Roentgenol. 183(2):331-6, 2004
- Kaufman DL et al: Somatic instability of the NF2 gene in schwannomatosis. Arch Neurol. 60(9):1317-20, 2003
- MacCollin M et al: Familial schwannomatosis: exclusion of the NF2 locus as the germline event. Neurology. 60(12):1968-74, 2003
- Baser ME et al: Predictors of the risk of mortality in neurofibromatosis 2. Am J Hum Genet. 71(4):715-23, 2002
- Gomez-Brouchet A et al: Vestibular schwannomas: correlations between magnetic resonance imaging and histopathologic appearance. Otol Neurotol. 22(1):79-86, 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
- Weber AL et al: Neurogenic tumors of the neck. Radiol Clin North Am. 38(5):1077-90, 2000
- Jacoby LB et al: Molecular analysis of the NF2 tumor-suppressor gene in schwannomatosis. Am J Hum Genet. 61(6):1293-302, 1997
- Dhamija R et al: Schwannomatosis, 1993
Related Anatomy
Loading...
Related Differential Diagnoses
Loading...
References
Tables
Tables
KEY FACTS
Imaging
Top Differential Diagnoses
Pathology
Clinical Issues
Diagnostic Checklist
TERMINOLOGY
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
- Abdel Razek AAK et al: Peripheral nerve sheath tumors of head and neck: imaging-based review of World Health Organization Classification. J Comput Assist Tomogr. 44(6):928-40, 2020
- Radtke HB et al: Genetic counseling for neurofibromatosis 1, neurofibromatosis 2, and schwannomatosis-practice resource of the national society of genetic counselors. J Genet Couns. 29(5):692-714, 2020
- Schraepen C et al: What to know about schwannomatosis: a literature review. Br J Neurosurg. 1-4, 2020
- 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
- Kresak JL et al: Neurofibromatosis: a review of NF1, NF2, and schwannomatosis. J Pediatr Genet. 5(2):98-104, 2016
- Asai K et al: Familial schwannomatosis with a germline mutation of SMARCB1 in Japan. Brain Tumor Pathol. 32(3):216-20, 2015
- Ioannidis P et al: Expanding schwannomatosis phenotype. J Neurooncol. 122(3):607-9, 2015
- Smith MJ et al: Mutations in LZTR1 add to the complex heterogeneity of schwannomatosis. Neurology. 84(2):141-7, 2015
- Koontz NA et al: Schwannomatosis: the overlooked neurofibromatosis? AJR Am J Roentgenol. 200(6):W646-53, 2013
- 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
- Hulsebos TJ et al: SMARCB1/INI1 maternal germ line mosaicism in schwannomatosis. Clin Genet. 77(1):86-91, 2010
- 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
- Lu-Emerson C et al: The neurofibromatoses. Part 2: NF2 and schwannomatosis. Rev Neurol Dis. 6(3):E81-6, 2009
- Silk PS et al: Surgical approaches to vestibular schwannomas: what the radiologist needs to know. Radiographics. 29(7):1955-70, 2009
- Smith MJ et al: Identity analysis of schwannomatosis kindreds with recurrent constitutional SMARCB1 (INI1) alterations. Clin Genet. 75(5):501-2, 2009
- 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
- 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
- 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
- Hulsebos TJ et al: Germline mutation of INI1/SMARCB1 in familial schwannomatosis. Am J Hum Genet. 80(4):805-10, 2007
- Westhout FD et al: Recognizing schwannomatosis and distinguishing it from neurofibromatosis type 1 or 2. J Spinal Disord Tech. 20(4):329-32, 2007
- 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
- Baser ME et al: Increasing the specificity of diagnostic criteria for schwannomatosis. Neurology. 66(5):730-2, 2006
- Hanemann CO et al: News on the genetics, epidemiology, medical care and translational research of Schwannomas. J Neurol. 253(12):1533-41, 2006
- Wippold FJ 2nd et al: Neuropathology for the neuroradiologist: palisades and pseudopalisades. AJNR Am J Neuroradiol. 27(10):2037-41, 2006
- 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
- MacCollin M et al: Diagnostic criteria for schwannomatosis. Neurology. 64(11):1838-45, 2005
- Mrugala MM et al: Peripheral and cranial nerve sheath tumors. Curr Opin Neurol. 18(5):604-10, 2005
- Beaman FD et al: Schwannoma: radiologic-pathologic correlation. Radiographics. 24(5):1477-81, 2004
- 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
- Isobe K et al: Imaging of ancient schwannoma. AJR Am J Roentgenol. 183(2):331-6, 2004
- Kaufman DL et al: Somatic instability of the NF2 gene in schwannomatosis. Arch Neurol. 60(9):1317-20, 2003
- MacCollin M et al: Familial schwannomatosis: exclusion of the NF2 locus as the germline event. Neurology. 60(12):1968-74, 2003
- Baser ME et al: Predictors of the risk of mortality in neurofibromatosis 2. Am J Hum Genet. 71(4):715-23, 2002
- Gomez-Brouchet A et al: Vestibular schwannomas: correlations between magnetic resonance imaging and histopathologic appearance. Otol Neurotol. 22(1):79-86, 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
- Weber AL et al: Neurogenic tumors of the neck. Radiol Clin North Am. 38(5):1077-90, 2000
- Jacoby LB et al: Molecular analysis of the NF2 tumor-suppressor gene in schwannomatosis. Am J Hum Genet. 61(6):1293-302, 1997
- Dhamija R et al: Schwannomatosis, 1993
