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Schwannomatosis 1(SWN1)

MedGen UID:
887689
•Concept ID:
C4048809
•
Neoplastic Process
Synonyms: Neurilemmomatosis congenital cutaneous; SWN1
 
Gene (location): SMARCB1 (22q11.23)
 
Monarch Initiative: MONDO:0024517
OMIM®: 162091

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]
Full text of GeneReview (by section):
Summary  |  Diagnosis  |  Clinical Characteristics  |  Genetically Related (Allelic) Disorders  |  Differential Diagnosis  |  Management  |  Genetic Counseling  |  Resources  |  Molecular Genetics  |  Chapter Notes  |  References
Authors:
Radhika Dhamija  |  Scott Plotkin  |  Alicia Gomes, et. al.   view full author information

Additional description

From OMIM
Schwannomatosis-1 (SWN1) is characterized by the onset of multiple intracranial, spinal, or peripheral schwannomas, without involvement of the vestibular nerve. Affected individuals may also have multiple meningiomas (summary by Bacci et al., 2010). Schwannomatosis, also known as neurilemmomatosis, was first reported by Niimura (1973) as neurofibromatosis type 3. Genetic Heterogeneity of Schwannomatosis See also schwannomatosis-2 (615670), conferred by germline heterozygous mutation in the LZTR1 gene (600574) on chromosome 22q11. Individual schwannoma tumors from patients with schwannomatosis have been found to harbor somatic mutations in the SMARCB1.  http://www.omim.org/entry/162091

Clinical features

From HPO
Meningioma
MedGen UID:
7532
•Concept ID:
C0025286
•
Neoplastic Process
The presence of a meningioma, i.e., a benign tumor originating from the dura mater or arachnoid mater.
See: Feature record | Search on this feature
Acoustic neuroma
MedGen UID:
45062
•Concept ID:
C0027859
•
Neoplastic Process
A vestibular schwannoma (also known as acoustic neuroma, acoustic neurinoma, or acoustic neurilemoma) is a benign, usually slow-growing tumor that develops from the VIIIth cranial nerve supplying the inner ear.
See: Feature record | Search on this feature
Spinal cord tumor
MedGen UID:
11551
•Concept ID:
C0037930
•
Neoplastic Process
A neoplasm affecting the spinal cord.
See: Feature record | Search on this feature
Peripheral schwannoma
MedGen UID:
869845
•Concept ID:
C4024276
•
Neoplastic Process
The presence of a peripheral schwannoma.
See: Feature record | Search on this feature

Professional guidelines

PubMed

Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation.
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
ERN GENTURIS clinical practice guidelines for the diagnosis, treatment, management and surveillance of people with schwannomatosis.
Evans DG, Mostaccioli S, Pang D, Fadzil O Connor M, Pittara M, Champollion N, Wolkenstein P, Thomas N, Ferner RE, Kalamarides M, Peyre M, Papi L, Legius E, Becerra JL, King A, Duff C, Stivaros S, Blanco I
Eur J Hum Genet 2022 Jul;30(7):812-817. Epub 2022 Apr 1 doi: 10.1038/s41431-022-01086-x. PMID: 35361920Free PMC Article
The Diagnosis and Management of Neurofibromatosis Type 1.
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

Epithelioid Schwannomas: An Analysis of 58 Cases Including Atypical Variants.
Hart J, Gardner JM, Edgar M, Weiss SW
Am J Surg Pathol 2016 May;40(5):704-13. doi: 10.1097/PAS.0000000000000589. PMID: 26752543

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