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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

Brown R
Curr Oncol Rep 2023 Dec;25(12):1409-1417. Epub 2023 Oct 31 doi: 10.1007/s11912-023-01451-z. PMID: 37906356
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

Recent clinical studies

Etiology

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
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
Belakhoua SM, Rodriguez FJ
Neurosurgery 2021 Feb 16;88(3):443-456. doi: 10.1093/neuros/nyab021. PMID: 33588442Free PMC Article
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
Cimino PJ, Gutmann DH
Handb Clin Neurol 2018;148:799-811. doi: 10.1016/B978-0-444-64076-5.00051-X. PMID: 29478615

Diagnosis

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
Tamura R
Int J Mol Sci 2021 May 29;22(11) doi: 10.3390/ijms22115850. PMID: 34072574Free PMC Article
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
Ly KI, Blakeley JO
Med Clin North Am 2019 Nov;103(6):1035-1054. doi: 10.1016/j.mcna.2019.07.004. PMID: 31582003
Cimino PJ, Gutmann DH
Handb Clin Neurol 2018;148:799-811. doi: 10.1016/B978-0-444-64076-5.00051-X. PMID: 29478615

Therapy

Plotkin SR, Yohay KH, Nghiemphu PL, Dinh CT, Babovic-Vuksanovic D, Merker VL, Bakker A, Fell G, Trippa L, Blakeley JO; INTUITT-NF2 Consortium
N Engl J Med 2024 Jun 27;390(24):2284-2294. Epub 2024 Jun 21 doi: 10.1056/NEJMoa2400985. PMID: 38904277
Brown R
Curr Oncol Rep 2023 Dec;25(12):1409-1417. Epub 2023 Oct 31 doi: 10.1007/s11912-023-01451-z. PMID: 37906356
Tamura R
Int J Mol Sci 2021 May 29;22(11) doi: 10.3390/ijms22115850. PMID: 34072574Free PMC Article
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

Brown R
Curr Oncol Rep 2023 Dec;25(12):1409-1417. Epub 2023 Oct 31 doi: 10.1007/s11912-023-01451-z. PMID: 37906356
Schraepen C, Donkersloot P, Duyvendak W, Plazier M, Put E, Roosen G, Vanvolsem S, Wissels M, Bamps S
Br J Neurosurg 2022 Apr;36(2):171-174. Epub 2020 Dec 2 doi: 10.1080/02688697.2020.1836323. PMID: 33263426
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
Coy S, Rashid R, Stemmer-Rachamimov A, Santagata S
Acta Neuropathol 2020 Apr;139(4):643-665. Epub 2019 Jun 4 doi: 10.1007/s00401-019-02029-5. PMID: 31161239Free PMC Article
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

Sundby RT, Rhodes SD, Komlodi-Pasztor E, Sarnoff H, Grasso V, Upadhyaya M, Kim A, Evans DG, Blakeley JO, Hanemann CO, Bettegowda C
Clin Trials 2024 Feb;21(1):40-50. Epub 2023 Oct 31 doi: 10.1177/17407745231203330. PMID: 37904489Free PMC Article
Perez-Becerril C, Evans DG, Smith MJ
Hum Mutat 2021 Oct;42(10):1187-1207. Epub 2021 Jul 29 doi: 10.1002/humu.24261. PMID: 34273915
Halliday D, Parry A, Evans DG
Curr Opin Oncol 2019 Nov;31(6):562-567. doi: 10.1097/CCO.0000000000000579. PMID: 31425178
Motta M, Fidan M, Bellacchio E, Pantaleoni F, Schneider-Heieck K, Coppola S, Borck G, Salviati L, Zenker M, Cirstea IC, Tartaglia M
Hum Mol Genet 2019 Mar 15;28(6):1007-1022. doi: 10.1093/hmg/ddy412. PMID: 30481304
Agaimy A, Foulkes WD
Semin Diagn Pathol 2018 May;35(3):193-198. Epub 2018 Feb 1 doi: 10.1053/j.semdp.2018.01.002. PMID: 29397238

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
Tulli M, Bondi S, Smart CE, Giordano L, Trimarchi M, Galli A, Di Santo D, Biafora M, Bussi M
Otolaryngol Head Neck Surg 2018 Feb;158(2):222-231. Epub 2017 Oct 17 doi: 10.1177/0194599817735508. PMID: 29039258
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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