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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
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 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.

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

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
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

Diagnosis

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
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

Nghiemphu PL, Vitte J, Dombi E, Nguyen T, Wagle N, Ishiyama A, Sepahdari AR, Cachia D, Widemann BC, Brackmann DE, Doherty JK, Kalamarides M, Giovannini M
J Neurooncol 2024 Apr;167(2):339-348. Epub 2024 Feb 19 doi: 10.1007/s11060-024-04596-4. PMID: 38372904Free PMC Article
Tamura R
Int J Mol Sci 2021 May 29;22(11) doi: 10.3390/ijms22115850. PMID: 34072574Free PMC Article
Ahmed SG, Abdelanabi A, Doha M, Brenner GJ
Cancer Gene Ther 2019 Sep;26(9-10):259-267. Epub 2019 Jan 9 doi: 10.1038/s41417-018-0077-3. PMID: 30622323
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

Nghiemphu PL, Vitte J, Dombi E, Nguyen T, Wagle N, Ishiyama A, Sepahdari AR, Cachia D, Widemann BC, Brackmann DE, Doherty JK, Kalamarides M, Giovannini M
J Neurooncol 2024 Apr;167(2):339-348. Epub 2024 Feb 19 doi: 10.1007/s11060-024-04596-4. PMID: 38372904Free 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
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
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

Clinical prediction guides

Dornhoffer JR, Haller T, Lohse CM, Driscoll CLW, Neff BA, Saoji A, Link MJ, Carlson ML
Otol Neurotol 2023 Sep 1;44(8):791-797. Epub 2023 Jul 18 doi: 10.1097/MAO.0000000000003963. PMID: 37464449
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
Brooks DG
Neurosurg Clin N Am 2004 Apr;15(2):145-55. doi: 10.1016/j.nec.2004.02.008. PMID: 15177314

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
Fertitta L, Bergqvist C, Sarin KY, Plotkin SR, Moertel C, Petersen AK, Cannon A, Berman Y, Pichard DC, Röhl C, Lessing A, Brizion B, Peiffer B, Ravaud P, Tran VT, Armand ML, Moryousef S, Ferkal S, Jannic A, Ezzedine K, Wolkenstein P; Response Evaluation in Neurofibromatosis and Schwannomatosis (REiNS) international collaboration
Br J Dermatol 2024 Jan 23;190(2):216-225. doi: 10.1093/bjd/ljad397. PMID: 37877514
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
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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