U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Schwannomatosis 2(SWN2)

MedGen UID:
816613
Concept ID:
C3810283
Disease or Syndrome
Synonyms: Schwannomatosis-2, susceptibility to; SWN2
 
Gene (location): LZTR1 (22q11.21)
 
Monarch Initiative: MONDO:0014299
OMIM®: 615670

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 descriptions

From OMIM
Schwannomatosis is an adult-onset tumor predisposition syndrome characterized by the development of multiple schwannomas in various areas of the body (summary by Piotrowski et al., 2014). For a general phenotypic description and a discussion of genetic heterogeneity of schwannomatosis, see SWN1 (162091).  http://www.omim.org/entry/615670
From MedlinePlus Genetics
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.

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.  https://medlineplus.gov/genetics/condition/schwannomatosis

Clinical features

From HPO
Schwannoma
MedGen UID:
45053
Concept ID:
C0027809
Neoplastic Process
A benign nerve sheath tumor composed of Schwann cells.
Spinal cord tumor
MedGen UID:
11551
Concept ID:
C0037930
Neoplastic Process
A neoplasm affecting the spinal cord.

Professional guidelines

PubMed

Zipfel J, Al-Hariri M, Gugel I, Haas-Lude K, Grimm A, Warmann S, Krimmel M, Mautner VF, Tatagiba M, Schuhmann MU
Childs Nerv Syst 2020 Oct;36(10):2433-2442. Epub 2020 Jun 6 doi: 10.1007/s00381-020-04703-6. PMID: 32506255Free PMC Article
Louvrier C, Pasmant E, Briand-Suleau A, Cohen J, Nitschké P, Nectoux J, Orhant L, Zordan C, Goizet C, Goutagny S, Lallemand D, Vidaud M, Vidaud D, Kalamarides M, Parfait B
Neuro Oncol 2018 Jun 18;20(7):917-929. doi: 10.1093/neuonc/noy009. PMID: 29409008Free PMC Article

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
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
Plotkin SR, Wick A
Semin Neurol 2018 Feb;38(1):73-85. Epub 2018 Mar 16 doi: 10.1055/s-0038-1627471. PMID: 29548054
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
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
Plotkin SR, Wick A
Semin Neurol 2018 Feb;38(1):73-85. Epub 2018 Mar 16 doi: 10.1055/s-0038-1627471. PMID: 29548054

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
Strowd RE 3rd
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

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
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
Louvrier C, Pasmant E, Briand-Suleau A, Cohen J, Nitschké P, Nectoux J, Orhant L, Zordan C, Goizet C, Goutagny S, Lallemand D, Vidaud M, Vidaud D, Kalamarides M, Parfait B
Neuro Oncol 2018 Jun 18;20(7):917-929. doi: 10.1093/neuonc/noy009. PMID: 29409008Free 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
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
Batista PB, Bertollo EM, Costa Dde S, Eliam L, Cunha KS, Cunha-Melo JR, Darrigo Junior LG, Geller M, Gianordoli-Nascimento IF, Madeira LG, Mendes HM, Miranda DM, Mata-Machado NA, Morato EG, Pavarino ÉC, Pereira LB, Rezende NA, Rodrigues Lde O, Sette JB
Arq Neuropsiquiatr 2015 Jun;73(6):531-43. doi: 10.1590/0004-282X20150042. PMID: 26083891

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
Wei G, Farooq J, Kumar A
Dermatol Ther 2021 Jan;34(1):e14613. Epub 2020 Dec 7 doi: 10.1111/dth.14613. PMID: 33258517
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

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...