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Schwannomatosis 1, somatic

MedGen UID:
865182
Concept ID:
C4016745
Finding
Synonym: SCHWANNOMATOSIS 1, SOMATIC
 
OMIM®: 601607

Professional guidelines

PubMed

Makashova ES, Zolotova SV, Absalyamova OV, Galkin MV, Petrokovskaya AV, Kozlov AV, Golanov AV
Zh Vopr Neirokhir Im N N Burdenko 2023;87(5):104-109. doi: 10.17116/neiro202387051104. PMID: 37830475
Parma D, Ferrer M, Luce L, Giliberto F, Szijan I
PLoS One 2017;12(12):e0189736. Epub 2017 Dec 20 doi: 10.1371/journal.pone.0189736. PMID: 29261756Free PMC Article

Recent clinical studies

Etiology

Makashova ES, Zolotova SV, Absalyamova OV, Galkin MV, Petrokovskaya AV, Kozlov AV, Golanov AV
Zh Vopr Neirokhir Im N N Burdenko 2023;87(5):104-109. doi: 10.17116/neiro202387051104. PMID: 37830475
Planet M, Kalamarides M, Peyre M
Curr Opin Oncol 2023 Nov 1;35(6):550-557. Epub 2023 Sep 1 doi: 10.1097/CCO.0000000000000994. PMID: 37820090
Ullrich NJ
J Child Neurol 2016 Oct;31(12):1399-411. Epub 2015 Oct 12 doi: 10.1177/0883073815604220. PMID: 26459515
Smith MJ
Cancer Genet 2015 Apr;208(4):107-14. Epub 2015 Feb 19 doi: 10.1016/j.cancergen.2015.02.003. PMID: 25857641
Goutagny S, Kalamarides M
J Neurooncol 2010 Sep;99(3):341-7. Epub 2010 Aug 17 doi: 10.1007/s11060-010-0339-x. PMID: 20714782

Diagnosis

Juchnewitsch AG, Pomm K, Dutta A, Tamp E, Valkna A, Lillepea K, Mahyari E, Tjagur S, Belova G, Kübarsepp V, Castillo-Madeen H, Riera-Escamilla A, Põlluaas L, Nagirnaja L, Poolamets O, Vihljajev V, Sütt M, Versbraegen N, Papadimitriou S, McLachlan RI, Jarvi KA, Schlegel PN, Tennisberg S, Korrovits P, Vigh-Conrad K, O'Bryan MK, Aston KI, Lenaerts T, Conrad DF, Kasak L, Punab M, Laan M
Front Endocrinol (Lausanne) 2024;15:1312357. Epub 2024 Apr 9 doi: 10.3389/fendo.2024.1312357. PMID: 38654924Free PMC Article
Makashova ES, Zolotova SV, Absalyamova OV, Galkin MV, Petrokovskaya AV, Kozlov AV, Golanov AV
Zh Vopr Neirokhir Im N N Burdenko 2023;87(5):104-109. doi: 10.17116/neiro202387051104. PMID: 37830475
Planet M, Kalamarides M, Peyre M
Curr Opin Oncol 2023 Nov 1;35(6):550-557. Epub 2023 Sep 1 doi: 10.1097/CCO.0000000000000994. PMID: 37820090
Ullrich NJ
J Child Neurol 2016 Oct;31(12):1399-411. Epub 2015 Oct 12 doi: 10.1177/0883073815604220. PMID: 26459515
Goutagny S, Kalamarides M
J Neurooncol 2010 Sep;99(3):341-7. Epub 2010 Aug 17 doi: 10.1007/s11060-010-0339-x. PMID: 20714782

Therapy

Rivera B, Nadaf J, Fahiminiya S, Apellaniz-Ruiz M, Saskin A, Chong AS, Sharma S, Wagener R, Revil T, Condello V, Harra Z, Hamel N, Sabbaghian N, Muchantef K, Thomas C, de Kock L, Hébert-Blouin MN, Bassenden AV, Rabenstein H, Mete O, Paschke R, Pusztaszeri MP, Paulus W, Berghuis A, Ragoussis J, Nikiforov YE, Siebert R, Albrecht S, Turcotte R, Hasselblatt M, Fabian MR, Foulkes WD
J Clin Invest 2020 Mar 2;130(3):1479-1490. doi: 10.1172/JCI130206. PMID: 31805011Free PMC Article
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
Ullrich NJ
J Child Neurol 2016 Oct;31(12):1399-411. Epub 2015 Oct 12 doi: 10.1177/0883073815604220. PMID: 26459515

Prognosis

Freier A, Lawson McLean AC, Loeschner D, Rosahl SK, Kruse J
Sci Rep 2024 Mar 23;14(1):6934. doi: 10.1038/s41598-024-57401-7. PMID: 38521834Free PMC Article
Makashova ES, Zolotova SV, Absalyamova OV, Galkin MV, Petrokovskaya AV, Kozlov AV, Golanov AV
Zh Vopr Neirokhir Im N N Burdenko 2023;87(5):104-109. doi: 10.17116/neiro202387051104. PMID: 37830475
Sadler KV, Bowers NL, Hartley C, Smith PT, Tobi S, Wallace AJ, King A, Lloyd SKW, Rutherford S, Pathmanaban ON, Hammerbeck-Ward C, Freeman S, Stapleton E, Taylor A, Shaw A, Halliday D, Smith MJ, Evans DG
J Med Genet 2021 Apr;58(4):227-233. Epub 2020 Jun 23 doi: 10.1136/jmedgenet-2020-107022. PMID: 32576656
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
Goutagny S, Kalamarides M
J Neurooncol 2010 Sep;99(3):341-7. Epub 2010 Aug 17 doi: 10.1007/s11060-010-0339-x. PMID: 20714782

Clinical prediction guides

Makashova ES, Zolotova SV, Absalyamova OV, Galkin MV, Petrokovskaya AV, Kozlov AV, Golanov AV
Zh Vopr Neirokhir Im N N Burdenko 2023;87(5):104-109. doi: 10.17116/neiro202387051104. PMID: 37830475
Sadler KV, Bowers NL, Hartley C, Smith PT, Tobi S, Wallace AJ, King A, Lloyd SKW, Rutherford S, Pathmanaban ON, Hammerbeck-Ward C, Freeman S, Stapleton E, Taylor A, Shaw A, Halliday D, Smith MJ, Evans DG
J Med Genet 2021 Apr;58(4):227-233. Epub 2020 Jun 23 doi: 10.1136/jmedgenet-2020-107022. PMID: 32576656
Deiller C, Van-Gils J, Zordan C, Tinat J, Loiseau H, Fabre T, Delleci C, Cohen J, Vidaud M, Parfait B, Goizet C
Eur J Med Genet 2019 Aug;62(8):103680. Epub 2019 May 22 doi: 10.1016/j.ejmg.2019.103680. PMID: 31128261
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
Biegel JA, Busse TM, Weissman BE
Am J Med Genet C Semin Med Genet 2014 Sep;166C(3):350-66. Epub 2014 Aug 28 doi: 10.1002/ajmg.c.31410. PMID: 25169151Free PMC Article

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