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Genetic Predisposition to Meningioma

MedGen UID:
1792158
•Concept ID:
C5555717
•
Finding

Definition

An inherited condition caused by mutation(s) in the SMARCE1 gene, encoding SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily E member 1. The condition is characterized by an increased risk of developing meningioma. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVGenetic Predisposition to Meningioma

Professional guidelines

PubMed

Management of Central and Peripheral Nervous System Tumors in Patients with Neurofibromatosis.
Brown R
Curr Oncol Rep 2023 Dec;25(12):1409-1417. Epub 2023 Oct 31 doi: 10.1007/s11912-023-01451-z. PMID: 37906356
Medical management of meningiomas.
Chukwueke UN, Wen PY
Handb Clin Neurol 2020;170:291-302. doi: 10.1016/B978-0-12-822198-3.00048-3. PMID: 32586501
Neurofibromatosis type 2 (NF2): diagnosis and management.
Lloyd SK, Evans DG
Handb Clin Neurol 2013;115:957-67. doi: 10.1016/B978-0-444-52902-2.00054-0. PMID: 23931824

Recent clinical studies

Etiology

Neurofibromatosis type 2 and related disorders.
Halliday D, Parry A, Evans DG
Curr Opin Oncol 2019 Nov;31(6):562-567. doi: 10.1097/CCO.0000000000000579. PMID: 31425178
Radiation-Induced Gliomas.
Aherne NJ, Murphy BM
Crit Rev Oncog 2018;23(1-2):113-118. doi: 10.1615/CritRevOncog.2018025740. PMID: 29953370
Epidemiology of Brain Tumors.
McNeill KA
Neurol Clin 2016 Nov;34(4):981-998. doi: 10.1016/j.ncl.2016.06.014. PMID: 27720005
Neurofibromatosis.
Korf BR
Handb Clin Neurol 2013;111:333-40. doi: 10.1016/B978-0-444-52891-9.00039-7. PMID: 23622184
Neurofibromatosis 2.
Hoa M, Slattery WH 3rd
Otolaryngol Clin North Am 2012 Apr;45(2):315-32, viii. doi: 10.1016/j.otc.2011.12.005. PMID: 22483819

Diagnosis

An update on the CNS manifestations of neurofibromatosis type 2.
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
Radiation-Induced Gliomas.
Aherne NJ, Murphy BM
Crit Rev Oncog 2018;23(1-2):113-118. doi: 10.1615/CritRevOncog.2018025740. PMID: 29953370
Hereditary SWI/SNF complex deficiency syndromes.
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
Neurofibromatosis.
Korf BR
Handb Clin Neurol 2013;111:333-40. doi: 10.1016/B978-0-444-52891-9.00039-7. PMID: 23622184
Neurofibromatosis 2.
Hoa M, Slattery WH 3rd
Otolaryngol Clin North Am 2012 Apr;45(2):315-32, viii. doi: 10.1016/j.otc.2011.12.005. PMID: 22483819

Therapy

Management of Central and Peripheral Nervous System Tumors in Patients with Neurofibromatosis.
Brown R
Curr Oncol Rep 2023 Dec;25(12):1409-1417. Epub 2023 Oct 31 doi: 10.1007/s11912-023-01451-z. PMID: 37906356
Available Therapies for Patients with Neurofibromatosis-Related Nervous System Tumors.
Strowd RE 3rd
Curr Treat Options Oncol 2020 Aug 7;21(10):81. doi: 10.1007/s11864-020-00779-z. PMID: 32767156
Medical management of meningiomas.
Chukwueke UN, Wen PY
Handb Clin Neurol 2020;170:291-302. doi: 10.1016/B978-0-12-822198-3.00048-3. PMID: 32586501
Radiation-Induced Gliomas.
Aherne NJ, Murphy BM
Crit Rev Oncog 2018;23(1-2):113-118. doi: 10.1615/CritRevOncog.2018025740. PMID: 29953370
CNS Tumors in Neurofibromatosis.
Campian J, Gutmann DH
J Clin Oncol 2017 Jul 20;35(21):2378-2385. Epub 2017 Jun 22 doi: 10.1200/JCO.2016.71.7199. PMID: 28640700Free PMC Article

Prognosis

Available Therapies for Patients with Neurofibromatosis-Related Nervous System Tumors.
Strowd RE 3rd
Curr Treat Options Oncol 2020 Aug 7;21(10):81. doi: 10.1007/s11864-020-00779-z. PMID: 32767156
An update on the CNS manifestations of neurofibromatosis type 2.
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
Radiation-Induced Gliomas.
Aherne NJ, Murphy BM
Crit Rev Oncog 2018;23(1-2):113-118. doi: 10.1615/CritRevOncog.2018025740. PMID: 29953370
Hereditary SWI/SNF complex deficiency syndromes.
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
Neurofibromatosis 2.
Hoa M, Slattery WH 3rd
Otolaryngol Clin North Am 2012 Apr;45(2):315-32, viii. doi: 10.1016/j.otc.2011.12.005. PMID: 22483819

Clinical prediction guides

Examination of Genetic Susceptibility in Radiation-Associated Meningioma.
Pemov A, Kim J, Jones K, Vogt A, Sadetzki S, Stewart DR
Radiat Res 2022 Jul 1;198(1):81-88. doi: 10.1667/RADE-21-00035.1. PMID: 35405740Free PMC Article
Neurofibromatosis type 2 and related disorders.
Halliday D, Parry A, Evans DG
Curr Opin Oncol 2019 Nov;31(6):562-567. doi: 10.1097/CCO.0000000000000579. PMID: 31425178
Hereditary SWI/SNF complex deficiency syndromes.
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
Cancer and Central Nervous System Tumor Surveillance in Pediatric Neurofibromatosis 2 and Related Disorders.
Evans DGR, Salvador H, Chang VY, Erez A, Voss SD, Druker H, Scott HS, Tabori U
Clin Cancer Res 2017 Jun 15;23(12):e54-e61. doi: 10.1158/1078-0432.CCR-17-0590. PMID: 28620005
MEN1 clinical background.
Igaz P
Adv Exp Med Biol 2009;668:1-15. doi: 10.1007/978-1-4419-1664-8_1. PMID: 20175448

Recent systematic reviews

Spinal cord ependymomas and the appearance of other de novo tumors: a systematic review.
Fotakopoulos G, Vagkopoulos K, Gatos C, Kotlia P, Brotis A
J Med Case Rep 2014 Dec 18;8:438. doi: 10.1186/1752-1947-8-438. PMID: 25519213Free PMC Article
Subsequent neoplasms of the CNS among survivors of childhood cancer: a systematic review.
Bowers DC, Nathan PC, Constine L, Woodman C, Bhatia S, Keller K, Bashore L
Lancet Oncol 2013 Jul;14(8):e321-8. doi: 10.1016/S1470-2045(13)70107-4. PMID: 23816298Free PMC Article
Spectrum and risk of neoplasia in Werner syndrome: a systematic review.
Lauper JM, Krause A, Vaughan TL, Monnat RJ Jr
PLoS One 2013;8(4):e59709. Epub 2013 Apr 1 doi: 10.1371/journal.pone.0059709. PMID: 23573208Free PMC Article

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