SLS tumors testeda | Number of somatic MMR mutations | CRC (n = 61) | EC (n = 22) | SST (n = 22) | Total (n = 105 tumors)g |
---|---|---|---|---|---|
Overall | Double somatic MMR mutations (dMMR-DS)b | 55 (90.2%)f | 15 (68.2%) | 17 (77.3%) | 87 (82.9%) |
Single somatic MMR mutation (dMMR-SS)c | 3 (4.9%) | 4 (18.2%) | 3 (13.6%) | 10 (9.5%) | |
No somatic MMR mutations (dMMR-SLS)d | 3 (4.9%) | 3 (13.6%) | 2 (9.1%) | 8 (7.6%) | |
Pattern of MMR IHC losse | |||||
MLH1/PMS2 | Double somatic mutations in MLH1 | 27 (93.1%) | 7 (70%) | 4 (66.7%) | 38 (84.4%) |
Single somatic mutation in MLH1 | 1 (3.4%) | 1 (10%) | 1 (16.7%) | 3 (6.7%) | |
No somatic mutation in MLH1 | 1 (3.4%) | 2 (20%) | 1 (16.7%) | 4 (8.9%) | |
Total | 29 (100%) | 10 (100%) | 6 (100%) | 45 (100%) | |
MSH2/MSH6 | Double somatic mutations in MSH2 | 23 (85.2%) | 3 (60%) | 12 (80%) | 38 (80.9%) |
Single somatic mutation in MSH2 | 2 (7.4%) | 2 (40%) | 2 (13.3%) | 6 (12.8%) | |
No somatic mutation in MSH2 | 2 (7.4%) | 0 (0%) | 1 (6.7%) | 3 (6.4%) | |
Total | 27 (100%) | 5 (100%) | 15 (100%) | 47 (100%) | |
MSH6 | Double somatic mutations in MSH6 | 4 (100%) | 5 (71.4%) | 1 (100%) | 10 (83.3%) |
Single somatic mutation in MSH6 | 0 (0%) | 1 (14.3%) | 0 (0%) | 1 (8.3%) | |
No somatic mutation in MSH6 | 0 (0%) | 1 (14.3%) | 0 (0%) | 1 (8.3%) | |
Total | 4 (100%) | 7 (100%) | 1 (100%) | 12 (100%) | |
PMS2 | Double somatic mutations in PMS2 | 1 (100%) | 0 (0%) | 0 (0%) | 1 (100%) |
Single somatic mutation in PMS2 | 0 (0%) | 0 (0%) | 0 (0%) | 0 (0%) | |
No somatic mutation in PMS2 | 0 (0%) | 0 (0%) | 0 (0%) | 0 (0%) | |
Total | 1 (100%) | 0 (0%) | 0 (0%) | 1 (100%) |