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Neurofibromatosis


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CONTENTS



CASE REPORTS
CLASSIFICATION
DIAGNOSIS
EPIDEMIOLOGY, RISK FACTORS, PREVENTION
ETIOLOGY, PATHOGENESIS, PATHOLOGY
FOLLOW-UP, QUALITY OF LIFE
INTEGRATIVE MEDICINE
OVERALL MANAGEMENT
PROGNOSIS
TREATMENT



CASE REPORTS



Neurofibromatosis
type 1


.

Campen CJ, Gutmann DH.
Optic Pathway Gliomas in Neurofibromatosis Type 1.
J Child Neurol. 2018 Jan;33(1):73-81. doi: 10.1177/0883073817739509. Epub 2017 Dec 15.
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.

Spyris CD, Castellino RC, Schniederjan MJ, Kadom N.
High-Grade Gliomas in Children with Neurofibromatosis Type 1: Literature Review and Illustrative Cases.
AJNR Am J Neuroradiol. 2018 Dec 20. doi: 10.3174/ajnr.A5888. [Epub ahead of print] =
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Neurofibromatosis
type 2



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. 2018 Jan;93(1):187-190. doi: 10.1111/cge.13099. Epub 2017 Nov 29.
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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. 2018 Jan;176(1):246-247. doi: 10.1002/ajmg.a.38505. Epub 2017 Nov 12.
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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 Nov;3(4):247-249. doi: 10.1159/000457959. Epub 2017 Mar 22.
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CLASSIFICATION





DIAGNOSIS



Neurofibromatosis
type 2



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. 2018 Feb 1;82(2):E32-E34. doi: 10.1093/neuros/nyx510. Published: 20 December 2017. Congr. Neuros. Surg.
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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. pii: S0967-5868(17)31233-X. doi: 10.1016/j.jocn.2018.01.012. [Epub ahead of print]
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Telleman JA, Stellingwerff MD, Brekelmans GJ, Visser LH.
Nerve ultrasound shows subclinical peripheral nerve involvement in neurofibromatosis type 2.
Muscle Nerve. 2018 Feb;57(2):312-316. doi: 10.1002/mus.25734. Epub 2017 Jul 18.
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EPIDEMIOLOGY, RISK FACTORS, PREVENTION





ETIOLOGY, PATHOGENESIS, PATHOLOGY



Neurofibromatosis
type 1


.

D'Angelo F, Ceccarelli M, Tala, Garofano L, Zhang J, Frattini V, Caruso FP, Lewis G, Alfaro KD, Bauchet L, Berzero G, Cachia D, Cangiano M, Capelle L, de Groot J, DiMeco F, Ducray F, Farah W, Finocchiaro G, Goutagny S, Kamiya-Matsuoka C, Lavarino C, Loiseau H, Lorgis V, Marras CE, McCutcheon I, Nam DH, Ronchi S, Saletti V, Seizeur R, Slopis J, Suñol M, Vandenbos F, Varlet P, Vidaud D, Watts C, Tabar V, Reuss DE, Kim SK, Meyronet D, Mokhtari K, Salvador H, Bhat KP, Eoli M, Sanson M, Lasorella A, Iavarone A.
The molecular landscape of glioma in patients with Neurofibromatosis 1.
Nat Med. 2019 Jan;25(1):176-187. doi: 10.1038/s41591-018-0263-8. Epub 2018 Dec 10.
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Neurofibromatosis
type 2



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. doi: 10.1001/jamadermatol.2017.5464. [Epub ahead of print]
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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. doi: 10.1007/s11060-017-2711-6. [Epub ahead of print]
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FOLLOW-UP, QUALITY OF LIFE



Neurofibromatosis
type 2



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;38(10):1505-1511. doi: 10.1097/MAO.0000000000001560.
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Coughlin AR, Willman TJ, Gubbels SP.
Systematic Review of Hearing Preservation After Radiotherapy for Vestibular Schwannoma.
Otol Neurotol. 2018 Jan 16. doi: 10.1097/MAO.0000000000001672. [Epub ahead of print]
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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 Dec;42(6):1329-1337. doi: 10.1111/coa.12882. Epub 2017 Apr 26.
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INTEGRATIVE MEDICINE





OVERALL MANAGEMENT



Neurofibromatosis
type 1


.

Plotkin SR, Wick A.
Neurofibromatosis and Schwannomatosis.
Semin Neurol. 2018 Feb;38(1):73-85. doi: 10.1055/s-0038-1627471. Epub 2018 Mar 16.
Source | Abstract | Full text | Similar articles



.

Spyris CD, Castellino RC, Schniederjan MJ, Kadom N.
High-Grade Gliomas in Children with Neurofibromatosis Type 1: Literature Review and Illustrative Cases.
AJNR Am J Neuroradiol. 2018 Dec 20. doi: 10.3174/ajnr.A5888. [Epub ahead of print]
Source | Similar articles



Neurofibromatosis
type 2


.

Coy S, Rashid R, Stemmer-Rachamimov A, Santagata S.
An update on the CNS manifestations of neurofibromatosis type 2.
Acta Neuropathol. 2019 Jun 4. doi: 10.1007/s00401-019-02029-5. [Epub ahead of print]
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Evans DG.
Neurofibromatosis type 2.
Handb Clin Neurol. 2015;132:87-96. doi: 10.1016/B978-0-444-62702-5.00005-6.
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Halliday J, Rutherford SA, McCabe MG, Evans DG.
An update on the diagnosis and treatment of vestibular schwannoma.
Expert Rev Neurother. 2018 Jan;18(1):29-39. doi: 10.1080/14737175.2018.1399795. Epub 2017 Nov 7.
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Lloyd SK, Evans DG.
Neurofibromatosis type 2 (NF2): diagnosis and management.
Handb Clin Neurol. 2013;115:957-67. doi: 10.1016/B978-0-444-52902-2.00054-0.
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Packer RJ, Fisher MJ, Cutter G, Cole-Plourde K, Korf BR.
Neurofibromatosis Clinical Trial Consortium.
J Child Neurol. 2018 Jan;33(1):82-91. doi: 10.1177/0883073817739196. First Published December 15, 2017
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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;16:Doc03. doi: 10.3205/cto000142. eCollection 2017.
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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. doi: 10.1002/ajmg.a.38486. [Epub ahead of print]
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Slattery WH.
Neurofibromatosis type 2.
Otolaryngol Clin North Am. 2015 Jun;48(3):443-60. doi: 10.1016/j.otc.2015.02.005.
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Tiwari R, Singh AK.
Neurofibromatosis Type 2.
StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2017 Jun-2017 Nov 30.
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PROGNOSIS



Neurofibromatosis
type 2



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. doi: 10.1097/MAO.0000000000001690. [Epub ahead of print]
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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. pii: bjophthalmol-2017-310672. doi: 10.1136/bjophthalmol-2017-310672. [Epub ahead of print]
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TREATMENT



Neurofibromatosis
type 1


.

Karaconji T, Whist E, Jamieson RV, Flaherty MP, Grigg JRB.
Neurofibromatosis Type 1: Review and Update on Emerging Therapies.
Asia Pac J Ophthalmol (Phila). 2018 Nov 2. doi: 10.22608/APO.2018182. [Epub ahead of print]
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Neurofibromatosis
type 2



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. 2018 Jan;109:47-58. doi: 10.1016/j.wneu.2017.08.159. Epub 2017 Sep 4.
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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. 2018 Feb 1;82(2):E49-E51. doi: 10.1093/neuros/nyx515. Published: 20 December 2017. Congr. Neuros. Surg.
Source | Abstract | Full text | Similar articles | 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. 2018 Feb 1;82(2):E40-E43. doi: 10.1093/neuros/nyx512. Published: 20 December 2017. Congr. Neuros. Surg.
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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. doi: 10.1007/s11060-017-2690-7. [Epub ahead of print]
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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. 2018 Jan;128(1):49-59. doi: 10.3171/2016.9.JNS161463. Epub 2017 Jan 27.
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Langlois AM, Iorio-Morin C, Masson-Côté L, Mathieu D.
Gamma Knife Stereotactic Radiosurgery for Nonvestibular Cranial Nerve Schwannomas.
World Neurosurg. 2017 Dec 6. pii: S1878-8750(17)32096-X. doi: 10.1016/j.wneu.2017.11.163. [Epub ahead of print]
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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. 2018 Feb 1;82(2):E52-E54. doi: 10.1093/neuros/nyx516. Published: 20 December 2017. Congr. Neuros. Surg.
Source | Abstract | Full text | Similar articles | Full guideline




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. 2018 Jan;299(Pt B):326-333. doi: 10.1016/j.expneurol.2017.09.008. Epub 2017 Sep 11.
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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 23:1-6. doi: 10.1080/00016489.2018.1424998. [Epub ahead of print]
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