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Multiple schwannomas

MedGen UID:
331714
•Concept ID:
C1834327
•
Finding

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMultiple schwannomas

Professional guidelines

PubMed

Diagnosis, Management, and New Therapeutic Options in Childhood Neurofibromatosis Type 2 and Related Forms.
Ruggieri M, Praticò AD, Evans DG
Semin Pediatr Neurol 2015 Dec;22(4):240-58. Epub 2015 Oct 28 doi: 10.1016/j.spen.2015.10.008. PMID: 26706012
Suggested response criteria for phase II antitumor drug studies for neurofibromatosis type 2 related vestibular schwannoma.
Plotkin SR, Halpin C, Blakeley JO, Slattery WH 3rd, Welling DB, Chang SM, Loeffler JS, Harris GJ, Sorensen AG, McKenna MJ, Barker FG 2nd
J Neurooncol 2009 May;93(1):61-77. Epub 2009 May 9 doi: 10.1007/s11060-009-9867-7. PMID: 19430883Free PMC Article
Diagnostic criteria for schwannomatosis.
MacCollin M, Chiocca EA, Evans DG, Friedman JM, Horvitz R, Jaramillo D, Lev M, Mautner VF, Niimura M, Plotkin SR, Sang CN, Stemmer-Rachamimov A, Roach ES
Neurology 2005 Jun 14;64(11):1838-45. doi: 10.1212/01.WNL.0000163982.78900.AD. PMID: 15955931

Recent clinical studies

Etiology

Clinical features of multiple spinal schwannomas without vestibular schwannomas.
Harimaya K, Matsumoto Y, Kawaguchi K, Okada S, Saiwai H, Matsushita A, Iida K, Kumamaru H, Saito T, Nakashima Y
J Orthop Sci 2022 May;27(3):563-568. Epub 2021 Apr 23 doi: 10.1016/j.jos.2021.02.014. PMID: 33902972
Diagnosis, Management, and New Therapeutic Options in Childhood Neurofibromatosis Type 2 and Related Forms.
Ruggieri M, Praticò AD, Evans DG
Semin Pediatr Neurol 2015 Dec;22(4):240-58. Epub 2015 Oct 28 doi: 10.1016/j.spen.2015.10.008. PMID: 26706012
Rhabdoid tumor predisposition syndrome.
Sredni ST, Tomita T
Pediatr Dev Pathol 2015 Jan-Feb;18(1):49-58. Epub 2014 Dec 10 doi: 10.2350/14-07-1531-MISC.1. PMID: 25494491
Neurofibromatosis.
Korf BR
Handb Clin Neurol 2013;111:333-40. doi: 10.1016/B978-0-444-52891-9.00039-7. PMID: 23622184
Diagnostic criteria for schwannomatosis.
MacCollin M, Chiocca EA, Evans DG, Friedman JM, Horvitz R, Jaramillo D, Lev M, Mautner VF, Niimura M, Plotkin SR, Sang CN, Stemmer-Rachamimov A, Roach ES
Neurology 2005 Jun 14;64(11):1838-45. doi: 10.1212/01.WNL.0000163982.78900.AD. PMID: 15955931

Diagnosis

Clinical features of multiple spinal schwannomas without vestibular schwannomas.
Harimaya K, Matsumoto Y, Kawaguchi K, Okada S, Saiwai H, Matsushita A, Iida K, Kumamaru H, Saito T, Nakashima Y
J Orthop Sci 2022 May;27(3):563-568. Epub 2021 Apr 23 doi: 10.1016/j.jos.2021.02.014. PMID: 33902972
Diagnosis, Management, and New Therapeutic Options in Childhood Neurofibromatosis Type 2 and Related Forms.
Ruggieri M, Praticò AD, Evans DG
Semin Pediatr Neurol 2015 Dec;22(4):240-58. Epub 2015 Oct 28 doi: 10.1016/j.spen.2015.10.008. PMID: 26706012
Neurofibromatosis.
Korf BR
Handb Clin Neurol 2013;111:333-40. doi: 10.1016/B978-0-444-52891-9.00039-7. PMID: 23622184
Neurofibromatosis type 2 (NF2): a clinical and molecular review.
Evans DG
Orphanet J Rare Dis 2009 Jun 19;4:16. doi: 10.1186/1750-1172-4-16. PMID: 19545378Free PMC Article
The neurofibromatoses. An overview.
Ruggieri M, Huson SM
Ital J Neurol Sci 1999 Apr;20(2):89-108. doi: 10.1007/s100720050017. PMID: 10933430

Therapy

Design of a randomized, placebo-controlled, phase 2 study evaluating the safety and efficacy of tanezumab for treatment of schwannomatosis-related pain.
Da JLW, Merker VL, Jordan JT, Ly KI, Muzikansky A, Parsons M, Wolters PL, Xu L, Styren S, Brown MT, Plotkin SR
Contemp Clin Trials 2022 Oct;121:106900. Epub 2022 Aug 26 doi: 10.1016/j.cct.2022.106900. PMID: 36038003
Phenotypic and genotypic overlap between mosaic NF2 and schwannomatosis in patients with multiple non-intradermal schwannomas.
Kehrer-Sawatzki H, Kluwe L, Friedrich RE, Summerer A, Schäfer E, Wahlländer U, Matthies C, Gugel I, Farschtschi S, Hagel C, Cooper DN, Mautner VF
Hum Genet 2018 Jul;137(6-7):543-552. Epub 2018 Jul 13 doi: 10.1007/s00439-018-1909-9. PMID: 30006736
LIM domain kinases as potential therapeutic targets for neurofibromatosis type 2.
Petrilli A, Copik A, Posadas M, Chang LS, Welling DB, Giovannini M, Fernández-Valle C
Oncogene 2014 Jul 3;33(27):3571-82. Epub 2013 Aug 12 doi: 10.1038/onc.2013.320. PMID: 23934191Free PMC Article
Regression of schwannomas induced by adeno-associated virus-mediated delivery of caspase-1.
Prabhakar S, Taherian M, Gianni D, Conlon TJ, Fulci G, Brockmann J, Stemmer-Rachamimov A, Sena-Esteves M, Breakefield XO, Brenner GJ
Hum Gene Ther 2013 Feb;24(2):152-62. Epub 2013 Jan 30 doi: 10.1089/hum.2012.094. PMID: 23140466Free PMC Article
Suggested response criteria for phase II antitumor drug studies for neurofibromatosis type 2 related vestibular schwannoma.
Plotkin SR, Halpin C, Blakeley JO, Slattery WH 3rd, Welling DB, Chang SM, Loeffler JS, Harris GJ, Sorensen AG, McKenna MJ, Barker FG 2nd
J Neurooncol 2009 May;93(1):61-77. Epub 2009 May 9 doi: 10.1007/s11060-009-9867-7. PMID: 19430883Free PMC Article

Prognosis

Difference in the hypoxic immunosuppressive microenvironment of patients with neurofibromatosis type 2 schwannomas and sporadic schwannomas.
Tamura R, Morimoto Y, Sato M, Kuranari Y, Oishi Y, Kosugi K, Yoshida K, Toda M
J Neurooncol 2020 Jan;146(2):265-273. Epub 2020 Jan 3 doi: 10.1007/s11060-019-03388-5. PMID: 31897926
Renal hybrid oncocytic/chromophobe tumor associated with multiple schwannomas: Case report and literature review.
Liu G, Li Y, Li Z, Zhou J, Huo Z, Ji Z
Medicine (Baltimore) 2017 Dec;96(48):e8939. doi: 10.1097/MD.0000000000008939. PMID: 29310387Free PMC Article
Cranial Nerve Schwannomas: Diagnostic Imaging Approach.
Skolnik AD, Loevner LA, Sampathu DM, Newman JG, Lee JY, Bagley LJ, Learned KO
Radiographics 2016 Sep-Oct;36(5):1463-77. Epub 2016 Aug 19 doi: 10.1148/rg.2016150199. PMID: 27541436
Neurofibromatosis type 2 (NF2): a clinical and molecular review.
Evans DG
Orphanet J Rare Dis 2009 Jun 19;4:16. doi: 10.1186/1750-1172-4-16. PMID: 19545378Free PMC Article
Multiple schwannomas and meningiomas associated with irradiation in childhood.
Sznajder L, Abrahams C, Parry DM, Gierlowski TC, Shore-Freedman E, Schneider AB
Arch Intern Med 1996 Sep 9;156(16):1873-8. PMID: 8790083

Clinical prediction guides

Revisiting the UK Genetic Severity Score for NF2: a proposal for the addition of a functional genetic component.
Catasús N, Garcia B, Galván-Femenía I, Plana A, Negro A, Rosas I, Ros A, Amilibia E, Becerra JL, Hostalot C, Rocaribas F, Bielsa I, Lazaro Garcia C, de Cid R, Serra E, Blanco I, Castellanos E; NF2 Spanish National Reference Centre HUGTP-ICO-IGTP
J Med Genet 2022 Jul;59(7):678-686. Epub 2021 Aug 4 doi: 10.1136/jmedgenet-2020-107548. PMID: 34348961
Segmental schwannomatosis: characteristics in 12 patients.
Alaidarous A, Parfait B, Ferkal S, Cohen J, Wolkenstein P, Mazereeuw-Hautier J
Orphanet J Rare Dis 2019 Aug 22;14(1):207. doi: 10.1186/s13023-019-1176-4. PMID: 31438995Free PMC Article
Phenotypic and genotypic overlap between mosaic NF2 and schwannomatosis in patients with multiple non-intradermal schwannomas.
Kehrer-Sawatzki H, Kluwe L, Friedrich RE, Summerer A, Schäfer E, Wahlländer U, Matthies C, Gugel I, Farschtschi S, Hagel C, Cooper DN, Mautner VF
Hum Genet 2018 Jul;137(6-7):543-552. Epub 2018 Jul 13 doi: 10.1007/s00439-018-1909-9. PMID: 30006736
Rhabdoid tumor predisposition syndrome.
Sredni ST, Tomita T
Pediatr Dev Pathol 2015 Jan-Feb;18(1):49-58. Epub 2014 Dec 10 doi: 10.2350/14-07-1531-MISC.1. PMID: 25494491
Suggested response criteria for phase II antitumor drug studies for neurofibromatosis type 2 related vestibular schwannoma.
Plotkin SR, Halpin C, Blakeley JO, Slattery WH 3rd, Welling DB, Chang SM, Loeffler JS, Harris GJ, Sorensen AG, McKenna MJ, Barker FG 2nd
J Neurooncol 2009 May;93(1):61-77. Epub 2009 May 9 doi: 10.1007/s11060-009-9867-7. PMID: 19430883Free PMC Article

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