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. 2020 Oct 17;79(11):1250–1252. doi: 10.1093/jnen/nlaa115

TABLE.

Familial Pediatric Clear Cell Meningioma With Germline SMARCE1 Mutation Cases Around the World

Publication (Author Name, Country, Year) Patients (Age/Age Range in Years) Location of Tumor Pathology (Microscopy, Molecular) Comments
Smith MJ et al, United Kingdom, 2013 (2) 6 (15–27) Spinal CCM; SMARCE1 loss in tumor in 2 patients 4 families with germline SMARCE1 mutation in all patients.
Raffalli-Ebezant et al, United Kingdom, 2015 (3) 1 (14) CP angle CCM, SMARCE1 loss in tumor and germline First reported case; mother with same germline mutation and has suspected spinal meningiomas (nonbiopsied).
Smith MJ et al, United Kingdom, 2014 (4) 4 (2–30) 1 cranial, 4 spinal CCM, SMARCE1 loss in tumor in 2 patients SMARCE1 germline mutation in all patients, related to CCM histology, not tumor location. Incomplete penetrance of disease in males.
Gerkes EH et al, The Netherlands, 2016 (7) 2 (10, 36) CP angle, spine CCM, SMARCE1 loss in tumor and germline in 1 patient Paternal grandmother at age 36 had spinal CCM, dad carrier of SMARCE1 germline mutation.
Inoue T et al, Japan, 2018 (6) 3 (5, 8, 34) Spinal, CP angle CCM, SMARCE1 loss in tumor in 1 patient SMARCE1germline mutation in all 3 patients who were part of single family.
Navalkele P et al, United States 2 (6, 25) CP angle CCM, SMARCE1 loss in tumor and germline in both patients Recurrent tumor; young mother with same tumor.