CRAN-13. FAMILIAL PEDIATRIC CLEAR CELL MENINGIOMA WITH GERMLINE SMARCE1 MUTATION. Issue 2 (22nd June 2018)

• Record Type: Journal Article
• Authors: Navalkele, Pournima; Guzman, Miguel; Pintz, Hailey; Kirby, Amelia; Geller, Thomas; Abdulrauf, Saleem
• Is Part Of: Neuro-oncology. Volume 20:Issue 2(2018)supplement 2
• Page Start: i39
• Page End: i39
• Publication Date: 2018-06-22
• Subjects: Brain Neoplasms -- Periodicals; Brain -- Tumors -- Periodicals; Brain -- Cancer -- Periodicals; Nervous system -- Cancer -- Periodicals; 616.99481
• DOI: 10.1093/neuonc/noy059.050
• Languages: English
• ISSNs: 1522-8517

Abstract

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.