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. |