Pediatric intracranial clear cell meningioma associated with a germline mutation of SMARCE1: a novel case
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Intracranial clear cell meningioma (CCM) represents a rare and potentially more aggressive subgroup of meningioma that is observed more frequently in children and adolescents. Despite its characterization as a histological entity, there is little evidence identifying tumorigenic etiologies. Recently, a novel mutation in SMARCE1, encoding a subunit of the SWI/SNF chromatin remodeling complex, was identified in a cohort of spinal CCMs. To date, no intracranial CCM has been subjected to analysis.
We report the case of an isolated intracranial CCM in a 14-year-old girl. Gross total resection was achieved following a two-stage approach with no evidence of tumor recurrence 8 months following presentation.
Exon sequencing identified a germline mutation in SMARCE1, which was also present in tumor DNA. Extensive literature review confirmed our study is the first to seek and report a genetic anomaly for childhood intracranial CCMs outside of the NF2 gene locus, and the first to make an association between a germline SMARCE1 mutation and childhood intracranial CCMs.
Together with the previous description of SMARCE1 mutations in spinal CCMs, our report suggests that SMARCE1 aberrations may be implicated in establishing a clear cell histology irrespective of meningioma location. We would advocate that, where feasible, genetic sequencing is performed on future new cases of childhood neuraxial CCMs and includes interrogation of the SMARCE1 gene.
KeywordsPediatric Intracranial Meningioma Clear cell SMARCE1 mutation
We would like to thank N. Bowers and H. Eaton for their contribution to the genetic sequencing and to acknowledge I. Kamaly-Asl, V. Josan, and S. Freeman for their involvement in the clinical care and operative management of the patient.
- 11.Kotecha RS, Pascoe EM, Rushing EJ, Rorke-Adams LB, Zwerdling T, Gao X, Li X, Greene S, Amirjamshidi A, Kim SK, Lima MA, Hung PC, Lakhdar F, Mehta N, Liu Y, Devi BI, Sudhir BJ, Lund-Johansen M, Gjerris F, Cole CH, Gottardo NG (2011) Meningiomas in children and adolescents: a meta-analysis of individual patient data. Lancet Oncol 12:1229–1239CrossRefPubMedGoogle Scholar
- 17.Perry A, Louis DN, Scheithauer BW, Budka H, von Deimling A (2007) Meningiomas. Kleihues, P, Burger PC, Scheithauer, BW. World Health Organization of tumours. Pathology and genetics of tumours of the nervous system. IARC Press, Lyon, In, pp 164–171Google Scholar
- 22.Shih DF, Wang JS, Pan RG, Tseng HH (1996) Clear cell meningioma: a case report. Zhonghua Yi Xue Za Zhi (Taipei) 57:452–456Google Scholar
- 23.Smith MJ, Higgs JE, Bowers NL, Halliday D, Paterson J, Gillespie J, Huson SM, Freeman SR, Lloyd S, Rutherford SA, King AT, Wallace AJ, Ramsden RT, Evans DG (2011) Cranial meningiomas in 411 neurofibromatosis type 2 (NF2) patients with proven gene mutations: clear positional effect of mutations, but absence of female severity effect on age at onset. J Med Genet 48:261–265CrossRefPubMedGoogle Scholar
- 26.Varela I, Tarpey P, Raine K, Huang D, Ong CK, Stephens P, Davies H, Jones D, Lin ML, Teague J, Bignell G, Butler A, Cho J, Dalgliesh GL, Galappaththige D, Greenman C, Hardy C, Jia M, Latimer C, Lau KW, Marshall J, McLaren S, Menzies A, Mudie L, Stebbings L, Largaespada DA, Wessels LF, Richard S, Kahnoski RJ, Anema J, Tuveson DA, Perez-Mancera PA, Mustonen V, Fischer A, Adams DJ, Rust A, Chan-on W, Subimerb C, Dykema K, Furge K, Campbell PJ, Teh BT, Stratton MR, Futreal PA (2011) Exome sequencing identifies frequent mutation of the SWI/SNF complex gene PBRM1 in renal carcinoma. Nature 469:539–542CrossRefPubMedCentralPubMedGoogle Scholar
- 28.Wiegand KC, Shah SP, Al-Agha OM, Zhao Y, Tse K, Zeng T, Senz J, McConechy MK, Anglesio MS, Kalloger SE, Yang W, Heravi-Moussavi A, Giuliany R, Chow C, Fee J, Zayed A, Prentice L, Melnyk N, Turashvili G, Delaney AD, Madore J, Yip S, McPherson AW, Ha G, Bell L, Fereday S, Tam A, Galletta L, Tonin PN, Provencher D, Miller D, Jones SJ, Moore RA, Morin GB, Oloumi A, Boyd N, Aparicio SA, Shih Ie M, Mes-Masson AM, Bowtell DD, Hirst M, Gilks B, Marra MA, Huntsman DG (2010) ARID1A mutations in endometriosis-associated ovarian carcinomas. N Engl J Med 363:1532–1543CrossRefPubMedCentralPubMedGoogle Scholar