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Neurofibromatosis Type 2
Kevin R. Moore, MD
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KEY FACTS

  • Terminology

    • Top Differential Diagnoses

      • Pathology

        • Diagnostic Checklist

          TERMINOLOGY

          • Abbreviations

            • Neurofibromatosis type 2 (NF2), nonsyndromic (NS)
          • Synonyms

            • Bilateral acoustic neurofibromatosis, central neurofibromatosis (both obsolete)
          • Definitions

            • Autosomal dominant disease from chromosomal 22 defect in which all patients develop CNS tumors
            • Mnemonic for NF2 tumors: Multiple inherited schwannomas, meningiomas, and ependymomas (MISME)

          IMAGING

          • General Features

            • Radiographic Findings

              • CT Findings

                • MR Findings

                  • Nonvascular Interventions

                    • 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. Lin AL et al: Advances in the treatment of neurofibromatosis-associated tumours. Nat Rev Clin Oncol. 10(11):616-24, 2013
                                            2. Asthagiri AR et al: Neurofibromatosis type 2. Lancet. 373(9679):1974-86, 2009
                                            3. Evans DG: Neurofibromatosis type 2 (NF2): a clinical and molecular review. Orphanet J Rare Dis. 4:16, 2009
                                            4. Holland K et al: Spinal tumors in neurofibromatosis-2: management considerations - a review. J Clin Neurosci. 16(2):169-77, 2009
                                            5. Patronas NJ et al: Intramedullary and spinal canal tumors in patients with neurofibromatosis 2: MR imaging findings and correlation with genotype. Radiology. 218(2):434-42, 2001
                                            6. Evans DG et al: Neurofibromatosis type 2. J Med Genet. 37(12):897-904, 2000
                                            7. den Bakker MA et al: Expression of the neurofibromatosis type 2 gene in human tissues. J Histochem Cytochem. 47(11):1471-80, 1999
                                            8. Kluwe L et al: Identification of NF2 germ-line mutations and comparison with neurofibromatosis 2 phenotypes. Hum Genet. 98(5):534-8, 1996
                                            9. Mautner VF et al: The neuroimaging and clinical spectrum of neurofibromatosis 2. Neurosurgery. 38(5):880-5; discussion 885-6, 1996
                                            Related Anatomy
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                                            Related Differential Diagnoses
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                                            References
                                            Tables

                                            Tables

                                            KEY FACTS

                                            • Terminology

                                              • Top Differential Diagnoses

                                                • Pathology

                                                  • Diagnostic Checklist

                                                    TERMINOLOGY

                                                    • Abbreviations

                                                      • Neurofibromatosis type 2 (NF2), nonsyndromic (NS)
                                                    • Synonyms

                                                      • Bilateral acoustic neurofibromatosis, central neurofibromatosis (both obsolete)
                                                    • Definitions

                                                      • Autosomal dominant disease from chromosomal 22 defect in which all patients develop CNS tumors
                                                      • Mnemonic for NF2 tumors: Multiple inherited schwannomas, meningiomas, and ependymomas (MISME)

                                                    IMAGING

                                                    • General Features

                                                      • Radiographic Findings

                                                        • CT Findings

                                                          • MR Findings

                                                            • Nonvascular Interventions

                                                              • 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. Lin AL et al: Advances in the treatment of neurofibromatosis-associated tumours. Nat Rev Clin Oncol. 10(11):616-24, 2013
                                                                                      2. Asthagiri AR et al: Neurofibromatosis type 2. Lancet. 373(9679):1974-86, 2009
                                                                                      3. Evans DG: Neurofibromatosis type 2 (NF2): a clinical and molecular review. Orphanet J Rare Dis. 4:16, 2009
                                                                                      4. Holland K et al: Spinal tumors in neurofibromatosis-2: management considerations - a review. J Clin Neurosci. 16(2):169-77, 2009
                                                                                      5. Patronas NJ et al: Intramedullary and spinal canal tumors in patients with neurofibromatosis 2: MR imaging findings and correlation with genotype. Radiology. 218(2):434-42, 2001
                                                                                      6. Evans DG et al: Neurofibromatosis type 2. J Med Genet. 37(12):897-904, 2000
                                                                                      7. den Bakker MA et al: Expression of the neurofibromatosis type 2 gene in human tissues. J Histochem Cytochem. 47(11):1471-80, 1999
                                                                                      8. Kluwe L et al: Identification of NF2 germ-line mutations and comparison with neurofibromatosis 2 phenotypes. Hum Genet. 98(5):534-8, 1996
                                                                                      9. Mautner VF et al: The neuroimaging and clinical spectrum of neurofibromatosis 2. Neurosurgery. 38(5):880-5; discussion 885-6, 1996