CRAN-13. FAMILIAL PEDIATRIC CLEAR CELL MENINGIOMA WITH GERMLINE SMARCE1 MUTATION

• Published in: Neuro-oncology (Charlottesville, Va.) Va.), 2018-06, Vol.20 (suppl_2), p.i39-i39
• Main Authors: Navalkele, Pournima, Guzman, Miguel, Pintz, Hailey, Kirby, Amelia, Geller, Thomas, Abdulrauf, Saleem
• Format: Article
• Language: English
• Subjects: Abstracts
• ISSN: 1522-8517; 1523-5866
• DOI: 10.1093/neuonc/noy059.050

Abstract INTRODUCTION Clear cell meningioma (CCM) is a rare low grade pediatric brain tumor with potential to metastasize and recur. We report a case of familial CCM with literature review. RESULTS A 6-year-old girl presented with cognitive decline, sub-acute headaches and emotional lability. MRI brain showed an enhancing tumor infiltrating the pre-pontine area, extending into cerebellopontine angle along brainstem and middle cranial fossa. Neurosurgical resection confirmed meningioma grade II, clear cell variant. Tumor cytogenetics (SNP) revealed 2 chromosome aberrations, a 95 Mb gain on 13q12.11-q34 and a 62 Mb gain on 20p13-q13.33 and 3 areas of absence of heterozygosity on chromosomes 5 and 17, encompassing the TERT and NF1 genes (including region for SMARCE1 gene). 25-year-old mother had multiple intracranial clear cell meningioma. Neurofibromatosis (NF) type 1 was ruled out clinically. Germline testing excluded NF type 2 and SMARCB1. Germline SMARCE1 testing revealed a pathogenic variant (c.525delT) in both individuals. DISCUSSION This is the first American case report of familial pediatric CCM. Familial CCM is more commonly associated with germline SMARCE1 tumor suppressor gene mutations than NF2 mutations. A UK case series has described familial CCM with germline SMARCE1 mutation with 14% incidence in solitary meningioma. Others have described familial meningioma concordance through SMARCE1 testing with screening guidelines for familial CCM and recommendation for SMARCE1 antibody testing for CCM diagnosis.