Neurofibromatosis Type II

Type II Neurofibromatosis

1. Neurofibromatosis type II Ade Wijaya, MD – November 2018

2. Outline: Introduction Epidemiology Diagnostic Criteria Diagnosis Clinical Features Management Summary

3. Introduction R are syndrome Hearing loss as presenting symptom Invasive , requiring a multispecialist team approach Chromosome 22 Slattery WH. Neurofibromatosis type 2. Otolaryngologic Clinics of North America. 2015 Jun 1;48(3):443-60.

4. Epidemiology The average age of diagnosis of NF2 is 25 years The average delay of diagnosis is 7 years No gender or ethnicity difference Epidemiologic studies place the incidence of NF2 between 1 in 33,000 live births and 1 in 87,410 live births Shelton C, Brackmann DE, House WF. Middle fossa approach. In : Brackmann DE, Shelton C, Arriaga MA, editors. Otologic surgery. 3rd edition . Philadelphia : Elsevier; 2010. p. 581–9. Antinheimo J, Sankila R, Carpen O, et al. Population-based analysis of sporadic and type 2 neurofibromatosis-associated meningiomas and schwannomas . Neurology 2000;54:71–6. Evans DG, Howard E, Giblin C, et al. Birth incidence and prevalence of tumorprone syndromes : estimates from a UK family genetic register service. Am J Med Genet A 2010;152A:327–32.

5. Diagnostic Criteria

6. Diagnosis A high-quality MRI scan performed with thin cuts through the internal auditory canals ( IAC ). Spine imaging Family history and genetic testing Slattery WH. Neurofibromatosis type 2. Otolaryngologic Clinics of North America. 2015 Jun 1;48(3):443-60.

7. Clinical Features Slattery WH. Neurofibromatosis 2 in otologic surgery. In: Brackmann DE, Shelton C , Arriaga MA, editors. Philadelphia: Elsevier; 2010. p. 691–701

8. Other Tumor Type in NF2 Slattery WH. Neurofibromatosis 2 in otologic surgery. In: Brackmann DE, Shelton C , Arriaga MA, editors. Philadelphia: Elsevier; 2010. p. 691–701

9. Management Observation Surgical Hearing preservation Auditory brainstem implant Cochlear implant Stereotactic irradiation Drug therapy Slattery WH. Neurofibromatosis type 2. Otolaryngologic Clinics of North America. 2015 Jun 1;48(3):443-60.

10. Management (Drug Therapy) T arget multiple intracellular signaling pathways that interact with the NF2 protein, including the phosphatidylinositol 3 kinase/Akt, Raf/MEK/ERK, and mTOR pathways as well as integrin/focal adhesion kinase/Src/Ras signaling cascades, platelet-derived growth factor receptor beta , and vascular endothelial growth factor (VEGF) pathways . E rlotinib , lapatinib, and bevacizumab, avastin, rapamycin. Wong HK, Lahdenranta J, Kamoun WS, et al. Anti-vascular endothelial growth factor therapies as a novel therapeutic approach to treating neurofibromatosisrelated tumors . Cancer Res 010;70(9 ):3483–93. Plotkin SR, Stemmer-Rachamimov AO, Barker FG 2nd, et al. Hearing improvement after bevacizumab in patients with neurofibromatosis type 2. N Engl J Med 2009;361(4):358–67. Plotkin SR, Singh MA, O’Donnell CC, et al. Audiologic and radiographic response of NF2-related vestibular schwannoma to erlotinib therapy. Nat Clin Pract Oncol 2008;5(8 ):487–91. Plotkin SR, Halpin C, McKenna MJ, et al. Erlotinib for progressive vestibular schwannoma in neurofibromatosis 2 patients. Otol Neurotol 2010;31(7):1135–43. Evans DG. Neurofibromatosis type 2 (NF2): a clinical and molecular review . Orphanet J Rare Dis 2009;4:16.

11. Summary Care of patients with NF2 requires knowledge of all tumors and symptoms involved with the disorder . Bilateral schwanomas Multidisciplinary approach

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