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SMARCB1-related schwannomatosis(SWN1)

MedGen UID:
887689
•Concept ID:
C4048809
•
Neoplastic Process
Synonyms: Neurilemmomatosis congenital cutaneous; Schwannomatosis 1
 
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

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

Recent clinical studies

Etiology

Consensus recommendations on counselling in Phelan-McDermid syndrome, with special attention to recurrence risk and to ring chromosome 22.
Koza SA, Tabet AC, Bonaglia MC, Andres S, Anderlid BM, Aten E, Stiefsohn D; European Phelan-McDermid syndrome consortium, Evans DG, van Ravenswaaij-Arts CMA, Kant SG
Eur J Med Genet 2023 Jul;66(7):104773. Epub 2023 Apr 28 doi: 10.1016/j.ejmg.2023.104773. PMID: 37120077
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

Diagnosis

Genetic findings in people with schwannomas who do not meet clinical diagnostic criteria for NF2-related schwannomatosis.
Smith MJ, Perez-Becerril C, van der Meer M, Burghel GJ, Waller SJ, Carney M, Bunstone S, Fryer K, Bowers NL, Hartley CL, Smith PT, Rutherford SA, Freeman SR, Lloyd SKW, Pathmanaban ON, King AT, Halliday D, Duff C, Evans DG
J Med Genet 2024 Oct 23;61(11):1011-1015. doi: 10.1136/jmg-2024-110217. PMID: 39209702
NF2-related schwannomatosis and other schwannomatosis: an updated genetic and epidemiological study.
Forde C, Smith MJ, Burghel GJ, Bowers N, Roberts N, Lavin T, Halliday J, King AT, Rutherford S, Pathmanaban ON, Lloyd S, Freeman S, Halliday D, Parry A, Axon P, Buttimore J, Afridi S, Obholzer R, Laitt R, Thomas O, Stivaros SM, Vassallo G, Evans DG
J Med Genet 2024 Aug 29;61(9):856-860. doi: 10.1136/jmg-2024-110065. PMID: 38925914
Consensus recommendations on counselling in Phelan-McDermid syndrome, with special attention to recurrence risk and to ring chromosome 22.
Koza SA, Tabet AC, Bonaglia MC, Andres S, Anderlid BM, Aten E, Stiefsohn D; European Phelan-McDermid syndrome consortium, Evans DG, van Ravenswaaij-Arts CMA, Kant SG
Eur J Med Genet 2023 Jul;66(7):104773. Epub 2023 Apr 28 doi: 10.1016/j.ejmg.2023.104773. PMID: 37120077
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
A mosaic pattern of INI1/SMARCB1 protein expression distinguishes Schwannomatosis and NF2-associated peripheral schwannomas from solitary peripheral schwannomas and NF2-associated vestibular schwannomas.
Caltabiano R, Magro G, Polizzi A, Praticò AD, Ortensi A, D'Orazi V, Panunzi A, Milone P, Maiolino L, Nicita F, Capone GL, Sestini R, Paganini I, Muglia M, Cavallaro S, Lanzafame S, Papi L, Ruggieri M
Childs Nerv Syst 2017 Jun;33(6):933-940. Epub 2017 Apr 1 doi: 10.1007/s00381-017-3340-2. PMID: 28365909

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