Research & Literature

Role of Merlin/NF2 inactivation in tumor biology.

Petrilli AM, Fernández-Valle C

Oncogene 2016; (35(5)):537-48 doi:10.1038/onc.2015.125.

Management of multiple tumors in neurofibromatosis type 2 patients.

Aboukais R, Bonne NX, Baroncini M, et al.

Neuro-Chirurgie 2018; (64(5)):364-369 doi:10.1016/j.neuchi.2014.11.012.

Comparison of outcomes of peripheral nerve schwannoma excision in neurofibromatosis type 2 patients and non-neurofibromatosis type 2 patients: A case control study.

Bendon CL, Furniss D, Giele HP

Journal of plastic, reconstructive & aesthetic surgery : JPRAS 2015; (68(9)):1199-203.

Clinical and molecular predictors of mortality in neurofibromatosis 2: a UK national analysis of 1192 patients.

Hexter A, Jones A, Joe H, et al.

Journal of medical genetics 2015; (52(10)):699-705 doi:10.1136/jmedgenet-2015-103290.

Neurofibromatosis type 2.

Evans DG

Handbook of clinical neurology 2015; (132()):87-96.

Long-term growth rate of vestibular schwannoma in neurofibromatosis 2: A volumetric consideration.

Picry A, Bonne NX, Ding J, et al.

The Laryngoscope 2016; (126(10)):2358-62 doi:10.1002/lary.25976.

Spectral-Domain Optical Coherence Tomography Findings in Neurofibromatosis Type 2.

Waisberg V, Rodrigues LO, Nehemy MB, et al.

Investigative ophthalmology & visual science 2016; (57(9)):OCT262-7 doi:10.1167/iovs.15-18919.

Volumetric analysis of tumor control following subtotal and near-total resection of vestibular schwannoma.

Jacob JT, Carlson ML, Driscoll CL, Link MJ

The Laryngoscope 2016; (126(8)):1877-82 doi:10.1002/lary.25779.

Neuron-Specific Deletion of the Nf2 Tumor Suppressor Impairs Functional Nerve Regeneration.

Schulz A, Büttner R, Toledo A, et al.

PloS one 2016; (11(7)):e0159718 doi:10.1371/journal.pone.0159718.

Hearing optimisation in neurofibromatosis type 2: A systematic review.

Lloyd SKW, King AT, Rutherford SA, et al.

Clinical otolaryngology : official journal of ENT-UK ; official journal of Netherlands Society for Oto-Rhino-Laryngology & Cervico-Facial Surgery 2017; (42(6)):1329-1337 doi:10.1111/coa.12882.

Nerve ultrasound shows subclinical peripheral nerve involvement in neurofibromatosis type 2.

Telleman JA, Stellingwerff MD, Brekelmans GJ, Visser LH

Muscle & nerve 2018; (57(2)):312-316 doi:10.1002/mus.25734.

Genetic Severity Score predicts clinical phenotype in NF2.

Halliday D, Emmanouil B, Pretorius P, et al.

Journal of medical genetics 2017; (54(10)):657-664 doi:10.1136/jmedgenet-2017-104519.

Surgery versus stereotactic radiosurgery for the treatment of multiple meningiomas in neurofibromatosis type 2: illustrative case and systematic review.

Nguyen T, Chung LK, Sheppard JP, et al.

Neurosurgical review 2019; (42(1)):85-96 doi:10.1007/s10143-017-0904-2.

Early Genetic Diagnosis of Neurofibromatosis Type 2 From Skin Plaque Plexiform Schwannomas in Childhood.

Castellanos E, Plana A, Carrato C, et al.

JAMA dermatology 2018; (154(3)):341-346 doi:10.1001/jamadermatol.2017.5464.

Schwannomatosis: a genetic and epidemiological study.

Evans DG, Bowers NL, Tobi S, et al.

Journal of neurology, neurosurgery, and psychiatry 2018; (89(11)):1215-1219 doi:10.1136/jnnp-2018-318538.

Neurofibromatosis Type 2-Related Eye Disease Correlated With Genetic Severity Type.

Painter SL, Sipkova Z, Emmanouil B, et al.

Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society 2019; (39(1)):44-49 doi:10.1097/WNO.0000000000000675.

[Primary meningioma of the optical nerve sheet in infancy as initial presentation of neurofibromatosis type 2].

Theurer S, Biewald E, Kuchelmeister K, et al.

Der Pathologe 2019; (40(2)):179-184 doi:10.1007/s00292-018-0464-4.

Progression of hearing loss in neurofibromatosis type 2 according to genetic severity.

Emmanouil B, Houston R, May A, et al.

The Laryngoscope 2019; (129(4)):974-980 doi:10.1002/lary.27586.

Identifying the deficiencies of current diagnostic criteria for neurofibromatosis 2 using databases of 2777 individuals with molecular testing.

Evans DG, King AT, Bowers NL, et al.

Genetics in medicine : official journal of the American College of Medical Genetics 2019; (21(7)):1525-1533 doi:10.1038/s41436-018-0384-y.

Efficacy and safety of bevacizumab for vestibular schwannoma in neurofibromatosis type 2: a systematic review and meta-analysis of treatment outcomes.

Lu VM, Ravindran K, Graffeo CS, et al.

Journal of neuro-oncology 2019; (144(2)):239-248 doi:10.1007/s11060-019-03234-8.

Peripheral nervous system alterations in infant and adult neurofibromatosis type 2.

Godel T, Bäumer P, Farschtschi S, et al.

Neurology 2019; (93(6)):e590-e598 doi:10.1212/WNL.0000000000007898.

Neurofibromatosis 2 in children presenting during the first decade of life.

Gaudioso C, Listernick R, Fisher MJ, et al.

Neurology 2019; (93(10)):e964-e967 doi:10.1212/WNL.0000000000008065.

Management of NF2-associated vestibular schwannomas in children and young adults: influence of surgery and clinical factors on tumor volume and growth rate.

Gugel I, Grimm F, Teuber C, et al.

Journal of neurosurgery. Pediatrics 2019; (24(5)):584-592 doi:10.3171/2019.6.PEDS1947.

Psychiatric disorders in the acoustic neuroma: about a case.

Younes S, Khouadja S, Younes S, et al.

The Pan African medical journal 2019; (33()):80 doi:10.11604/pamj.2019.33.80.18398.

Association between patient-reported outcomes and objective disease indices in people with NF2.

Shukla A, Hsu FC, Slobogean B, et al.

Neurology. Clinical practice 2019; (9(4)):322-329 doi:10.1212/CPJ.0000000000000648.

Bevacizumab for NF2-associated vestibular schwannomas of childhood and adolescence.

Renzi S, Michaeli O, Salvador H, et al.

Pediatric blood & cancer 2020; (67(5)):e28228 doi:10.1002/pbc.28228.

Merlin regulates signaling events at the nexus of development and cancer.

Mota M, Shevde LA

Cell communication and signaling : CCS 2020; (18(1)):63 doi:10.1186/s12964-020-00544-7.

Presenting symptoms in children with neurofibromatosis type 2.

Gugel I, Grimm F, Teuber C, et al.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery 2020; (36(10)):2463-2470 doi:10.1007/s00381-020-04729-w.

Ipsilateral Cochlear Implantation in the Presence of Observed and Irradiated Vestibular Schwannomas.

Urban MJ, Moore DM, Kwarta K, et al.

The Annals of otology, rhinology, and laryngology 2020; (129(12)):1229-1238 doi:10.1177/0003489420935482.

Inherited genetic syndromes and meningiomas.

Look A, Lonser RR

Handbook of clinical neurology 2020; (169()):121-129 doi:10.1016/B978-0-12-804280-9.00007-X.

Quality of life in patients with neurofibromatosis type 1 and 2 in Canada.

Hamoy-Jimenez G, Kim R, Suppiah S, et al.

Neuro-oncology advances 2020; (2(Suppl 1)):i141-i149 doi:10.1093/noajnl/vdaa003.

The Role of Neuro-Ophthalmologists in the Care of Patients With Neurofibromatosis Type 2.

Landau K

Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society 2020; (40 Suppl 1()):S51-S56 doi:10.1097/WNO.0000000000001008.

Targeted deep sequencing of DNA from multiple tissue types improves the diagnostic rate and reveals a highly diverse phenotype of mosaic neurofibromatosis type 2.

Teranishi Y, Miyawaki S, Hongo H, et al.

Journal of medical genetics 2021; (58(10)):701-711 doi:10.1136/jmedgenet-2020-106973.

Disease course of neurofibromatosis type 2: a 30-year follow-up study of 353 patients seen at a single institution.

Forde C, King AT, Rutherford SA, et al.

Neuro-oncology 2021; (23(7)):1113-1124 doi:10.1093/neuonc/noaa284.

Neurofibromatosis Type 2 (NF2) and the Implications for Vestibular Schwannoma and Meningioma Pathogenesis.

Bachir S, Shah S, Shapiro S, et al.

International journal of molecular sciences 2021; (22(2)) doi:10.3390/ijms22020690.

Evaluation of phoneme recognition skills in pediatric auditory brainstem implant users.

Baş B, Yücel E

European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery 2022; (279(4)):1741-1749 doi:10.1007/s00405-021-06840-3.

Current Understanding of Neurofibromatosis Type 1, 2, and Schwannomatosis.

Tamura R

International journal of molecular sciences 2021; (22(11)) doi:10.3390/ijms22115850.

Current Recommendations for Patient-Reported Outcome Measures Assessing Domains of Quality of Life in Neurofibromatosis Clinical Trials.

Wolters PL, Vranceanu AM, Thompson HL, et al.

Neurology 2021; (97(7 Suppl 1)):S50-S63 doi:10.1212/WNL.0000000000012421.

Genotype-Phenotype Correlations in Neurofibromatosis and Their Potential Clinical Use.

Bettegowda C, Upadhayaya M, Evans DG, et al.

Neurology 2021; (97(7 Suppl 1)):S91-S98 doi:10.1212/WNL.0000000000012436.

Structural Abnormalities of the Central Retina in Neurofibromatosis Type 2.

Emmanouil B, Wasik M, Charbel Issa P, et al.

Ophthalmic research 2022; (65(1)):77-85 doi:10.1159/000519143.

Efficacy of Cochlear Implantation in Neurofibromatosis Type 2 Related Hearing Loss.

Sobczak G, Marchant W, Misurelli S, et al.

The Annals of otology, rhinology, and laryngology 2023; (132(3)):284-293 doi:10.1177/00034894221091010.

Natural history and volumetric analysis of meningiomas in neurofibromatosis type 2.

Oyem PC, de Andrade EJ, Soni P, et al.

Neurosurgical focus 2022; (52(5)):E5 doi:10.3171/2022.2.FOCUS21779.

Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation.

Plotkin SR, Messiaen L, Legius E, et al.

Genetics in medicine : official journal of the American College of Medical Genetics 2022; (24(9)):1967-1977 doi:10.1016/j.gim.2022.05.007.

Early prediction of functional prognosis in neurofibromatosis type 2 patients based on genotype-phenotype correlation with targeted deep sequencing.

Teranishi Y, Miyawaki S, Nakatomi H, et al.

Scientific reports 2022; (12(1)):9543 doi:10.1038/s41598-022-13580-9.

Neurofibromatosis Type 2: Multiple Meningiomatosis and Vestibular Schwannomas on 68 Ga-DOTATATE PET/CT.

Filizoglu N, Ozguven S

Clinical nuclear medicine 2022; (47(11)):e710-e712 doi:10.1097/RLU.0000000000004355.

The German version of the neurofibromatosis 2 impact on quality of life questionnaire correlates with severity of depression and physician-reported disease severity.

Lawson McLean AC, Freier A, Lawson McLean A, et al.

Orphanet journal of rare diseases 2023; (18(1)):3 doi:10.1186/s13023-022-02607-z.

Surgical Management of Peripheral Nerve Pathology in Patients With Neurofibromatosis Type 2.

Peyre M, Tran S, Parfait B, et al.

Neurosurgery 2023; (92(2)):317-328 doi:10.1227/neu.0000000000002202.

Updated protocol for genetic testing, screening and clinical management of individuals at risk of NF2-related schwannomatosis.

Halliday D, Emmanouil B, Evans DGR

Clinical genetics 2023; (103(5)):540-552 doi:10.1111/cge.14310.

Intraoperative Cochlear Nerve Monitoring in Vestibular Schwannoma Microsurgery.

Zhan KY, Wick CC

Otolaryngologic clinics of North America 2023; (56(3)):471-482 doi:10.1016/j.otc.2023.02.007.

Multicenter, prospective, phase II study of maintenance bevacizumab for children and adults with NF2-related schwannomatosis and progressive vestibular schwannoma.

Plotkin SR, Allen J, Dhall G, et al.

Neuro-oncology 2023; (25(8)):1498-1506 doi:10.1093/neuonc/noad066.

Targeted Therapies in the Treatment of Vestibular Schwannomas: Current State and New Horizons.

Welling DB

Otolaryngologic clinics of North America 2023; (56(3)):543-556 doi:10.1016/j.otc.2023.02.013.

Radiation treatment of benign tumors in NF2-related-schwannomatosis: A national study of 266 irradiated patients showing a significant increase in malignancy/malignant progression.

Evans DG, Halliday D, Obholzer R, et al.

Neuro-oncology advances 2023; (5(1)):vdad025 doi:10.1093/noajnl/vdad025.

The clinical, genetic, and immune landscape of meningioma in patients with NF2-schwannomatosis.

Gregory GE, Islim AI, Hannan CJ, et al.

Neuro-oncology advances 2023; (5(Suppl 1)):i94-i104 doi:10.1093/noajnl/vdac127.

[AUDITORY BRAINSTEM IMPLANTS (ABI) IN CHILDREN: CASE SERIES IN SHAARE ZEDEK MEDICAL CENTER].

Perez R, Sichel JY, Salem R, et al.

Harefuah 2023; (162(7)):413-418.

A systematic review of targeted therapy for vestibular schwannoma in patients with NF2-related schwannomatosis.

Chiranth S, Langer SW, Poulsen HS, Urup T

Neuro-oncology advances 2023; (5(1)):vdad099 doi:10.1093/noajnl/vdad099.

[New classification and approaches to the treatment of schwannomatosis].

Makashova ES, Zolotova SV, Absalyamova OV, et al.

Zhurnal voprosy neirokhirurgii imeni N. N. Burdenko 2023; (87(5)):104-109 doi:10.17116/neiro202387051104.

Comparing Speech Recognition Outcomes Between Cochlear Implants and Auditory Brainstem Implants in Patients With NF2-Related Schwannomatosis.

Dornhoffer JR, Plitt AR, Lohse CM, et al.

Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology 2024; (45(1)):29-35 doi:10.1097/MAO.0000000000004047.

Retinal Ischemia as a Presenting Ocular Sign of Neurofibromatosis Type 2.

Zhao B, Yan Y

Case reports in ophthalmological medicine 2024; (2024()):9133929 doi:10.1155/2024/9133929.

[Neurofibromatosis type 2 in the otorhinolaryngological practice].

Subbotina MV, Berseneva AV

Vestnik otorinolaringologii 2024; (89(1)):37-41 doi:10.17116/otorino20248901137.

The impact of mental health on health-related quality of life in patients with NF2-related Schwannomatosis.

Freier A, Lawson McLean AC, Loeschner D, et al.

Scientific reports 2024; (14(1)):6934 doi:10.1038/s41598-024-57401-7.

Bevacizumab Treatment for Patients with NF2-Related Schwannomatosis: A Single Center Experience.

Douwes JPJ, Hensen EF, Jansen JC, et al.

Cancers 2024; (16(8)) doi:10.3390/cancers16081479.

NF2-Related Schwannomatosis (NF2): Molecular Insights and Therapeutic Avenues.

Kim BH, Chung YH, Woo TG, et al.

International journal of molecular sciences 2024; (25(12)) doi:10.3390/ijms25126558.

Synergistic effect of PAK and Hippo pathway inhibitor combination in NF2-deficient Schwannoma.

Benton D, Yee Chow H, Karchugina S, Chernoff J

PloS one 2024; (19(7)):e0305121 doi:10.1371/journal.pone.0305121.

Efficacy and Toxicity of Bevacizumab in Children with NF2-Related Schwannomatosis: A Systematic Review.

Tops AL, Schopman JE, Koot RW, et al.

Cancers 2025; (17(3)) doi:10.3390/cancers17030519.

Genetic Basis and Clinical Management of Schwannomatosis.

Nagasaka S, Phi JH

Journal of Korean Neurosurgical Society 2025; (68(3)):286-293 doi:10.3340/jkns.2025.0001.

Clinical and Genetic Overview of Neurofibromatosis Type 2 (NF2).

Kim TK, Park YS, Nakagawa I

Journal of Korean Neurosurgical Society 2025; (68(3)):272-277 doi:10.3340/jkns.2025.0048.

High de novo mutation rate in Iranian NF2-related schwannomatosis patients with a report of a novel NF2 mutation.

Ghalavand MA, Asghari A, Jahanbakhshi A, et al.

Molecular biology reports 2025; (52(1)):402 doi:10.1007/s11033-025-10431-4.

Quality of life assessment in schwannomatosis - A systematic review.

Lawson McLean AC, Rosahl SK, Lawson McLean A, et al.

Brain & spine 2025; (5()):104279 doi:10.1016/j.bas.2025.104279.

Neurofibromatosis Type 2: A Rare Case of Multiple Intracranial Schwannomas, Meningiomas, and Ependymomas (MISME) Syndrome and Literature Review.

Hamza L, Yahya N, Wafa H, et al.

Cureus 2025; (17(7)):e88131 doi:10.7759/cureus.88131.

Prevalence, natural history and surgical outcome of spinal meningiomas in NF2-related schwannomatosis.

Deboeuf L, Keraudy A, Picart T, et al.

Journal of neuro-oncology 2025; (175(3)):1001-1010 doi:10.1007/s11060-025-05231-6.

Clinical epidemiology of NF2-related schwannomatosis.

Evans DG, Plotkin SR

Handbook of clinical neurology 2025; (212()):129-134 doi:10.1016/B978-0-12-824534-7.00013-5.

The role of the clinical nurse specialist in managing vestibular schwannoma.

Wadeson A, Buttimore J

Handbook of clinical neurology 2025; (212()):347-358 doi:10.1016/B978-0-12-824534-7.00018-4.

Distinct Imaging Features of Peripheral Nerve Sheath Tumours in NF2-Related Schwannomatosis: A Case Report.

Hanna K, Cristiana R, Natalie W, et al.

Case reports in neurological medicine 2025; (2025()):6923539 doi:10.1155/crnm/6923539.

The clinical spectrum of paediatric NF2- related schwannomatosis.

Halliday D, Hanington L

Familial cancer 2025; (24(4)):89 doi:10.1007/s10689-025-00511-6.

Variable Schwann cell merlin inactivation is targetable with TEAD1 inhibition in schwannomas.

Laws MT, Bhatt D, Mandal D, et al.

bioRxiv : the preprint server for biology 2025; doi:10.1101/2025.11.15.688608.

Surgery in NF2-Schwannomatosis.

Kalamarides M, Pathmanaban O, Peyre M, King AT

Familial cancer 2025; (25(1)):6 doi:10.1007/s10689-025-00522-3.