Table 1 Clinical characteristics and genotype of CMs.
Part | Group-1 | Group-2 | Sample ID | Mutation type | Mutant-allele frequency (WES) | Age (years) | Sex | Location | Size of CMs (mm) |
|---|---|---|---|---|---|---|---|---|---|
Brain/spinal cord | Ctrl | Ctrl | Ctrl_1 | / | / | 9 | Male | Temporal | Â |
Ctrl_2 | / | / | 5 | Female | Frontal | Â | |||
Ctrl_3 | / | / | 30 | Female | Temporal | Â | |||
MAP3K3 mutations | non-PIK3CA mutations | MAP3K3_1 | MAP3K3 I441M | 3.4% | 48 | Female | spinal cord (C7) | 8.7 | |
MAP3K3_2 | MAP3K3 I441M | 8.4% | 42 | Female | spinal cord (T6) | 12 | |||
MAP3K3_3 | MAP3K3 I441M | 7.5% | 44 | Female | Pons | 13.9 | |||
PIK3CA mutations | with-PIK3CA mutations | PIK3CA_1 | PIK3CA C420R | 3.60% | 29 | Male | Pons | 18.9 | |
PIK3CA_2 | PIK3CA H1047R | 5.10% | 5 | Female | Frontal | 33 | |||
PIK3CA_3 | PIK3CA H1047R | 1.30% | 33 | Male | Thalamus | 23.1 | |||
PIK3CA_4 | PIK3CA H1047R | 0.60% | 31 | Male | Cerebellum | 17 | |||
PIK3CA_5 | PIK3CA H1047R | 2.30% | 55 | Male | Pons | 13.3 | |||
Double somatic mutations | Double somatic_1 | CCM1 L558Wfs*4 | 23.80% | 37 | Male | Frontal | 36.8 | ||
PIK3CA E545K | 8.80% | ||||||||
Double somatic_2 | MAP3K3 I441M | 1.20% | 30 | Female | Temporal | 15.5 | |||
PIK3CA E545K | 1.70% | ||||||||
Germline mutations plus PIK3CA mutations | Germline+PIK3CA_1 | CCM1 K654Sfs*21 | 66.3% | 15 | Male | Frontal | 26 | ||
PIK3CA E542K | 0.4% | ||||||||
Germline+PIK3CA_2 | CCM1 L551Afs*17 | 55.4% | 0 (10 months) | Male | Temporal | 31 | |||
PIK3CA E542K | 2.3% |
