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Schwannomatosis(SWNTS1)

MedGen UID:
234775
Concept ID:
C1335929
Neoplastic Process
Synonym: SWNTS1
SNOMED CT: Schwannomatosis (781641005); Neurilemmomatosis (781641005)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Genes (locations): LZTR1 (22q11.21); SMARCB1 (22q11.23)
 
Monarch Initiative: MONDO:0008075
OMIM® Phenotypic series: PS162091
Orphanet: ORPHA93921

Disease characteristics

Excerpted from the GeneReview: LZTR1- and SMARCB1-Related Schwannomatosis
LZTR1- and SMARCB1-related schwannomatosis are characterized by a predisposition to develop multiple non-intradermal schwannomas. Individuals most commonly present between the second and fourth decade of life. The most common presenting feature is localized or diffuse pain or asymptomatic mass. Schwannomas most often affect peripheral nerves and spinal nerves. Meningiomas have only been reported in individuals with SMARCB1-related schwannomatosis. Malignancy remains a risk especially in individuals with SMARCB1-related schwannomatosis. [from GeneReviews]
Authors:
Radhika Dhamija  |  Scott Plotkin  |  Alicia Gomes, et. al.   view full author information

Additional description

From MedlinePlus Genetics
Schwannomatosis is a disorder characterized by multiple noncancerous (benign) tumors called schwannomas, which are a type of tumor that grows on nerves. Schwannomas develop when Schwann cells, which are specialized cells that normally form an insulating layer around the nerve, grow uncontrollably to form a tumor.

Schwannomatosis is usually considered to be a form of neurofibromatosis, which is a group of disorders characterized by the growth of tumors in the nervous system. The other two recognized forms of neurofibromatosis are neurofibromatosis type 1 and neurofibromatosis type 2. The features of schwannomatosis can be very similar to those of neurofibromatosis type 2. However, schwannomatosis almost never includes inner ear tumors called vestibular schwannomas, which are a hallmark of neurofibromatosis type 2. Additional features of the other forms of neurofibromatosis, including the development of other types of tumors, are much less common in schwannomatosis.

The signs and symptoms of schwannomatosis usually appear in early adulthood. The most common symptom is long-lasting (chronic) pain, which can affect any part of the body. In some cases, the pain is felt in areas where there are no known tumors. The pain associated with this condition ranges from mild to severe and can be difficult to manage. Other signs and symptoms that can occur with schwannomatosis depend on the location of the tumors and which nerves are affected. These problems include numbness, weakness, tingling, and headaches. The life expectancy of people with schwannomatosis is normal.  https://medlineplus.gov/genetics/condition/schwannomatosis

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSchwannomatosis

Professional guidelines

PubMed

Plotkin SR, Messiaen L, Legius E, Pancza P, Avery RA, Blakeley JO, Babovic-Vuksanovic D, Ferner R, Fisher MJ, Friedman JM, Giovannini M, Gutmann DH, Hanemann CO, Kalamarides M, Kehrer-Sawatzki H, Korf BR, Mautner VF, MacCollin M, Papi L, Rauen KA, Riccardi V, Schorry E, Smith MJ, Stemmer-Rachamimov A, Stevenson DA, Ullrich NJ, Viskochil D, Wimmer K, Yohay K; International Consensus Group on Neurofibromatosis Diagnostic Criteria (I-NF-DC), Huson SM, Wolkenstein P, Evans DG
Genet Med 2022 Sep;24(9):1967-1977. Epub 2022 Jun 9 doi: 10.1016/j.gim.2022.05.007. PMID: 35674741
Ly KI, Blakeley JO
Med Clin North Am 2019 Nov;103(6):1035-1054. doi: 10.1016/j.mcna.2019.07.004. PMID: 31582003
Geller JI, Roth JJ, Biegel JA
Crit Rev Oncog 2015;20(3-4):199-216. doi: 10.1615/critrevoncog.2015013566. PMID: 26349416Free 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
Behzad B, Dianat S
Semin Musculoskelet Radiol 2022 Apr;26(2):172-181. Epub 2022 May 24 doi: 10.1055/s-0042-1742704. PMID: 35609578
Jordan JT, Plotkin SR
Hematol Oncol Clin North Am 2022 Feb;36(1):253-267. Epub 2021 Oct 27 doi: 10.1016/j.hoc.2021.08.010. PMID: 34756486
Jordan JT, Plotkin SR
Neurol Clin 2018 Aug;36(3):501-516. doi: 10.1016/j.ncl.2018.04.007. PMID: 30072068
Plotkin SR, Wick A
Semin Neurol 2018 Feb;38(1):73-85. Epub 2018 Mar 16 doi: 10.1055/s-0038-1627471. PMID: 29548054

Diagnosis

Tamura R
Int J Mol Sci 2021 May 29;22(11) doi: 10.3390/ijms22115850. PMID: 34072574Free PMC Article
Ly KI, Blakeley JO
Med Clin North Am 2019 Nov;103(6):1035-1054. doi: 10.1016/j.mcna.2019.07.004. PMID: 31582003
Plotkin SR, Wick A
Semin Neurol 2018 Feb;38(1):73-85. Epub 2018 Mar 16 doi: 10.1055/s-0038-1627471. PMID: 29548054
Korf BR, Bebin EM
Pediatr Rev 2017 Mar;38(3):119-128. doi: 10.1542/pir.2015-0118. PMID: 28250072
Uhlmann EJ, Plotkin SR
Adv Exp Med Biol 2012;724:266-77. doi: 10.1007/978-1-4614-0653-2_20. PMID: 22411249

Therapy

Tamura R
Int J Mol Sci 2021 May 29;22(11) doi: 10.3390/ijms22115850. PMID: 34072574Free PMC Article
Mumtaz SM, Bhardwaj G, Goswami S, Tonk RK, Goyal RK, Abu-Izneid T, Pottoo FH
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Curr Treat Options Oncol 2020 Aug 7;21(10):81. doi: 10.1007/s11864-020-00779-z. PMID: 32767156
Bakker AC, La Rosa S, Sherman LS, Knight P, Lee H, Pancza P, Nievo M
Prog Neurobiol 2017 May;152:149-165. Epub 2016 Feb 5 doi: 10.1016/j.pneurobio.2016.01.004. PMID: 26854064
Ullrich NJ
J Child Neurol 2016 Oct;31(12):1399-411. Epub 2015 Oct 12 doi: 10.1177/0883073815604220. PMID: 26459515

Prognosis

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
Cai C
Semin Diagn Pathol 2021 May;38(3):167-174. Epub 2021 Mar 15 doi: 10.1053/j.semdp.2021.03.003. PMID: 33762087
Strowd RE 3rd
Curr Treat Options Oncol 2020 Aug 7;21(10):81. doi: 10.1007/s11864-020-00779-z. PMID: 32767156
Farschtschi S, Mautner VF, McLean ACL, Schulz A, Friedrich RE, Rosahl SK
Dtsch Arztebl Int 2020 May 15;117(20):354-360. doi: 10.3238/arztebl.2020.0354. PMID: 32657748Free PMC Article
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Pediatr Dev Pathol 2017 Jun;20(3):232-239. Epub 2017 Apr 18 doi: 10.1177/1093526617703540. PMID: 28420320

Clinical prediction guides

Welling DB
Otolaryngol Clin North Am 2023 Jun;56(3):543-556. Epub 2023 Apr 4 doi: 10.1016/j.otc.2023.02.013. PMID: 37024334
Sadler KV, Bowes J, Rowlands CF, Perez-Becerril C, van der Meer CM, King AT, Rutherford SA, Pathmanaban ON, Hammerbeck-Ward C, Lloyd SKW, Freeman SR, Williams R, Hannan CJ, Lewis D, Eyre S, Evans DG, Smith MJ
Brain 2023 Jul 3;146(7):2861-2868. doi: 10.1093/brain/awac478. PMID: 36546557Free PMC Article
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
Schulz A, Grafe P, Hagel C, Bäumer P, Morrison H, Mautner VF, Farschtschi S
Exp Neurol 2018 Jan;299(Pt B):334-344. Epub 2017 Jun 3 doi: 10.1016/j.expneurol.2017.06.006. PMID: 28587874
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

Recent systematic reviews

Wang B, Yan M, Liu C, Yang Z, Wang X, Zhao F, Wang Z, Li P, Wang Y, Li S, Liu G, Liu P
NeuroRehabilitation 2024;54(2):213-225. doi: 10.3233/NRE-230198. PMID: 38427506
Acar S, Nieblas-Bedolla E, Armstrong AE, Hirbe AC
Pediatr Neurol 2022 Sep;134:1-6. Epub 2022 Jun 10 doi: 10.1016/j.pediatrneurol.2022.06.003. PMID: 35759947
Chick G, Victor J, Poujade T, Hollevoet N
J Neurol Surg A Cent Eur Neurosurg 2018 Sep;79(5):408-415. Epub 2018 Jun 14 doi: 10.1055/s-0038-1655548. PMID: 29902824
Wolters PL, Martin S, Merker VL, Gardner KL, Hingtgen CM, Tonsgard JH, Schorry EK, Baldwin A; REiNS International Collaboration
Neurology 2013 Nov 19;81(21 Suppl 1):S6-14. doi: 10.1212/01.wnl.0000435747.02780.bf. PMID: 24249806Free PMC Article
Vranceanu AM, Merker VL, Park E, Plotkin SR
J Neurooncol 2013 Sep;114(3):257-62. Epub 2013 Jul 2 doi: 10.1007/s11060-013-1195-2. PMID: 23817811

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