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Familial tumor syndromes
Neurofibromatosis type 2


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Contents



CASE REPORTS


CLASSIFICATION


DIAGNOSIS, PRESENTATION


EPIDEMIOLOGY, RISK FACTORS


ETIOLOGY, PATHOGENESIS, PATHOLOGY


FOLLOW-UP, SIDE EFFECTS, QUALITY OF LIFE


INTEGRATIVE MEDICINE


OVERALL MANAGEMENT


PROGNOSIS, OUTCOMES


TREATMENT



Case reports



Libert DM, Prayson RA.
Pediatric clear cell meningioma involving the middle cranial fossa in the context of NF2 and SMARCE1 mutations.
Ann Diagn Pathol. [2020 Apr 13]. 2020;46:151516. Doi 10.1016/j.anndiagpath.2020.151516. _




Mills JR, Moyer AM, Kipp BR, Poplawski AB, Messiaen LM, Babovic-Vuksanovic D.
Unilateral vestibular schwannoma and meningiomas in a patient with PIK3CA-related segmental overgrowth: Co-occurrence of mosaicism for 2 rare disorders.
Clin Genet. [2017 Nov 29]. 2018;93(1):187-190. Doi 10.1111/cge.13099. _




Narine KY, Oh CC, Fuchs HE, Van Mater D.
Calvarial mass as a presenting feature of neurofibromatosis type 2 in a pediatric patient.
Am J Med Genet A. [2017 Nov 12]. 2018;176(1):246-247. Doi 10.1002/ajmg.a.38505. _




Zimmermann L, Reinhard T, Lange C, Heegaard S, Auw-Haedrich C.
Corneal Myofibroma (Keloid) in a Young Patient with Neurofibromatosis Type 2.
Ocul Oncol Pathol. [2017 Mar 22]. 2017 Nov;3(4):247-249. Doi 10.1159/000457959. _



Diagnosis, Presentation



Dunn IF, Bi WL, Mukundan S, Delman BN, Parish J, Atkins T, Asher AL, Olson JJ.
Congress of Neurological Surgeons Systematic Review and Evidence-Based Guidelines on the Role of Imaging in the Diagnosis and Management of Patients With Vestibular Schwannomas.
Neurosurgery. [2017 Dec 20]. 2018;82(2):E32-E34. Doi 10.1093/neuros/nyx510. _
Congr Neuros Surg. [2017 Dec 22]. Full guideline. _




Jayanetti V, Klistorner AI, Graham SL, Dexter M, Flaherty MP, Jones K, Billson FA, Wilson M, North K, Grigg JR, Fraser CL.
Monitoring of optic nerve function in Neurofibromatosis 2 children with optic nerve sheath meningiomas using multifocal visual evoked potentials.
J Clin Neurosci. [2018 Feb 2]. 2018;50:262-267. Doi 10.1016/j.jocn.2018.01.012. _




Telleman JA, Stellingwerff MD, Brekelmans GJ, Visser LH.
Nerve ultrasound shows subclinical peripheral nerve involvement in neurofibromatosis type 2.
Muscle Nerve. [2017 Jul 18]. 2018;57(2):312-316. Doi 10.1002/mus.25734. _



Etiology, pathogenesis, pathology



Castellanos E, Plana A, Carrato C, Carrió M, Rosas I, Amilibia E, Roca-Ribas F, Hostalot C, Castillo A, Ros A, Quer A, Becerra JL, Salvador H, Lázaro C, Blanco I, Serra E, Bielsa I; for CSUR Phakomatoses Multidisciplinary Clinics HUGTiP-ICO-IGTP.
Early Genetic Diagnosis of Neurofibromatosis Type 2 From Skin Plaque Plexiform Schwannomas in Childhood.
JAMA Dermatol. [2018 Jan 10]. 2018;154(3):341-346. Doi 10.1001/jamadermatol.2017.5464. _




Paganini I, Capone GL, Vitte J, Sestini R, Putignano AL, Giovannini M, Papi L.
Double somatic SMARCB1 and NF2 mutations in sporadic spinal schwannoma.
J Neurooncol. [2017 Dec 11]. 2018;137(1):33-38. Doi 10.1007/s11060-017-2711-6. _



Follow-up, Side effects, Quality of life



Ahsan SF, Huq F, Seidman M, Taylor A.
Long-term Hearing Preservation After Resection of Vestibular Schwannoma: A Systematic Review and Meta-analysis.
Otol Neurotol. [2017 Dec 1]. 2017;38(10):1505-1511. Doi 10.1097/MAO.0000000000001560. _




Coughlin AR, Willman TJ, Gubbels SP.
Systematic Review of Hearing Preservation After Radiotherapy for Vestibular Schwannoma.
Otol Neurotol. [2018 Jan 16]. 2018;39(3):273-283. Doi 10.1097/MAO.0000000000001672. _




Lloyd SKW, King AT, Rutherford SA, Hammerbeck-Ward CL, Freeman SRM, Mawman DJ, O'Driscoll M, Evans DG.
Hearing optimisation in neurofibromatosis type 2: A systematic review.
Clin Otolaryngol. [2017 Apr 26]. 2017;42(6):1329-1337. Doi 10.1111/coa.12882. _



Overall management



Coy S, Rashid R, Stemmer-Rachamimov A, Santagata S.
An update on the CNS manifestations of neurofibromatosis type 2.
Acta Neuropathol. [2019 Jun 4]. 2020;139(4):643-665. Doi 10.1007/s00401-019-02029-5. _




Evans DG.
Neurofibromatosis type 2.
Handb Clin Neurol. [2015 Nov 10]. 2015;132:87-96. Doi 10.1016/B978-0-444-62702-5.00005-6. _




Halliday J, Rutherford SA, McCabe MG, Evans DG.
An update on the diagnosis and treatment of vestibular schwannoma.
Expert Rev Neurother. [2017 Nov 7]. 2018;18(1):29-39. Doi 10.1080/14737175.2018.1399795. _




Lloyd SK, Evans DG.
Neurofibromatosis type 2 (NF2): diagnosis and management.
Handb Clin Neurol. [2013 Aug 8]. 2013;115:957-67. Doi 10.1016/B978-0-444-52902-2.00054-0. _




Packer RJ, Fisher MJ, Cutter G, Cole-Plourde K, Korf BR.
Neurofibromatosis Clinical Trial Consortium.
J Child Neurol. [2017 Dec 15]. 2018 Jan;33(1):82-91. Doi 10.1177/0883073817739196. _




Rosahl S, Bohr C, Lell M, Hamm K, Iro H.
Diagnostics and therapy of vestibular schwannomas - an interdisciplinary challenge.
GMS Curr Top Otorhinolaryngol Head Neck Surg. 2017 Dec 18. 2017;16:Doc03. Doi 10.3205/cto000142. _




Ruggieri M, Praticò AD, Caltabiano R, Polizzi A.
Early history of the different forms of neurofibromatosis from ancient Egypt to the British Empire and beyond: First descriptions, medical curiosities, misconceptions, landmarks, and the persons behind the syndromes.
Am J Med Genet A. [2018 Feb 1]. 2018;176(3):515-550. Doi 10.1002/ajmg.a.38486. _




Slattery WH.
Neurofibromatosis type 2.
Otolaryngol Clin North Am. [2015 May 28]. 2015 Jun;48(3):443-60. Doi 10.1016/j.otc.2015.02.005. _




Tiwari R, Singh AK.
Neurofibromatosis Type 2.
StatPearls Publishing. 2017 Nov 30. Treasure Island (FL). NCBI Bookshelf NBK470350. _



Prognosis



deTorres AT, Brewer CC, Zalewski CK, King KA, Walker R, Scott GC, Asthagiri AR, Chittiboina P, Kim HJ.
Audiologic Natural History of Small Volume Cochleovestibular Schwannomas in Neurofibromatosis Type 2.
Otol Neurotol. [2018 Jan 16]. 2018;39(3):357-364. Doi 10.1097/MAO.0000000000001690. _




Narayan DS, Traber GL, Figueira E, Pirbhai A, Landau K, Davis G, Crompton J, Selva D.
Natural history of primary paediatric optic nerve sheath meningioma: case series and review.
Br J Ophthalmol. [2017 Nov 16]. 2018;102(8):1147-1153. Doi 10.1136/bjophthalmol-2017-310672. _



Treatment



Chung LK, Nguyen TP, Sheppard JP, Lagman C, Tenn S, Lee P, Kaprealian T, Chin R, Gopen Q, Yang I.
A Systematic Review of Radiosurgery Versus Surgery for Neurofibromatosis Type 2 Vestibular Schwannomas.
World Neurosurg. [2017 Sep 4]. 2018;109:47-58. Doi 10.1016/j.wneu.2017.08.159. _




Germano IM, Sheehan J, Parish J, Atkins T, Asher A, Hadjipanayis CG, Burri SH, Green S, Olson JJ.
Congress of Neurological Surgeons Systematic Review and Evidence-Based Guidelines on the Role of Radiosurgery and Radiation Therapy in the Management of Patients With Vestibular Schwannomas.
Neurosurgery. [2017 Dec 20]. 2018;82(2):E49-E51. Doi 10.1093/neuros/nyx515. _.
Congr Neuros Surg. [2017 Dec 22]. Full guideline. _




Hadjipanayis CG, Carlson ML, Link MJ, Rayan TA, Parish J, Atkins T, Asher AL, Dunn IF, Corrales CE, Van Gompel JJ, Sughrue M, Olson JJ.
Congress of Neurological Surgeons Systematic Review and Evidence-Based Guidelines on Surgical Resection for the Treatment of Patients With Vestibular Schwannomas.
Neurosurgery. [2017 Dec 20]. 2018;82(2):E40-E43. Doi 10.1093/neuros/nyx512. _
Congr Neuros Surg. [2017 Dec 22]. Full guideline. _




Kalamarides M, Essayed W, Lejeune JP, Aboukais R, Sterkers O, Bernardeschi D, Peyre M, Lloyd SK, Freeman S, Hammerbeck-Ward C, Kellett M, Rutherford SA, Evans DG, Pathmanaban O, King AT.
Spinal ependymomas in NF2: a surgical disease?
J Neurooncol. [2017 Nov 29]. 2018;136(3):605-611. Doi 10.1007/s11060-017-2690-7. _




Kruyt IJ, Verheul JB, Hanssens PEJ, Kunst HPM.
Gamma Knife radiosurgery for treatment of growing vestibular schwannomas in patients with neurofibromatosis Type 2: a matched cohort study with sporadic vestibular schwannomas.
J Neurosurg. [2017 Jan 27]. 2018;128(1):49-59. Doi 10.3171/2016.9.JNS161463. _




Langlois AM, Iorio-Morin C, Masson-Côté L, Mathieu D.
Gamma Knife Stereotactic Radiosurgery for Nonvestibular Cranial Nerve Schwannomas.
World Neurosurg. [2017 Dec 6]. 2018;110:e1031-e1039. Doi 10.1016/j.wneu.2017.11.163. _




Van Gompel JJ, Agazzi S, Carlson ML, Adewumi DA, Hadjipanayis CG, Uhm JH, Olson JJ.
Congress of Neurological Surgeons Systematic Review and Evidence-Based Guidelines on Emerging Therapies for the Treatment of Patients With Vestibular Schwannomas.
Neurosurgery. [2017 Dec 20]. 2018;82(2):E52-E54. Doi 10.1093/neuros/nyx516. _
Congr Neuros Surg. [2017 Dec 22]. Full guideline. _




Yao L, Alahmari M, Temel Y, Hovinga K.
Therapy of Sporadic and NF2-Related Vestibular Schwannoma.
Cancers (Basel). 2020 Mar 31. 2020;12(4):E835. Doi 10.3390/cancers12040835. _




Zhang N, Chen J, Ferraro GB, Wu L, Datta M, Jain RK, Plotkin SR, Stemmer-Rachamimov A, Xu L.
Anti-VEGF treatment improves neurological function in tumors of the nervous system.
Exp Neurol. [2017 Sep 11]. 2018;299(Pt B):326-333. Doi 10.1016/j.expneurol.2017.09.008. _




Zhou Q, Yang Z, Wang Z, Wang B, Wang X, Zhao C, Zhang S, Wu T, Li P, Li S, Zhao F, Liu P.
Awake craniotomy for assisting placement of auditory brainstem implant in NF2 patients.
Acta Otolaryngol. [2018 Jan 23]. 2018;138(6):548-553. Doi 10.1080/00016489.2018.1424998. _