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. |