Table 2 Germline pathogenic variants and somatic NF2 mutations and CNVs in the tumors.
Patient | Sex | Germline pathogenic variant | Number of spinal meningiomas | Number of cranial meningiomas | Somatic mutation or CNV |
|---|---|---|---|---|---|
P1 | F | Nonsense, exon11, c.1021C > T, p.R341X | 4 | 5 | Chr22 LOH in all tumors |
P2 | F | Splice region, exon 2, c.241-9A > G | 2 | 0 | Chr22 LOH in both tumors |
P3 | F | Nonsense, exon2, c.193C > T, p.Q65X | 0 | 3 | Chr22 LOH in all tumors |
P4 | F | Nonsense, exon11, c.1030C > T, p.Q344X | 3 | 0 | Chr22 LOH in all tumors |
P5 | F | Splice site, exon4, c.447+1G > T | 1 | 0 | Chr22 LOH |
P6 | M | Nonsense, exon7, c.634C > T, p.Q212X | 0 | 1 | Chr22 LOH |
P7 | M | Nonsense, exon8, c.784C > T, p.R262X | 0 | 1 | Frameshift, exon12, c.1234delC, p.Q412fs |
