Table 1. Methylation status of 11p15 imprinted regions KvDMR and H19-DMR in SDHAF2 mutant PGLs with and without chromosome 11 LOH.
| Gene mutation and sample ID | 11p15 status | 11q12 status | Methylation rate of tumor DNA | H19-DMR/KvDMR methylation rate Ratio of tumor DNA | Methylation rate of matched blood DNA |
|---|---|---|---|---|---|
| SDHAF2 (1) | LOH | LOH (maternal) | KvDMR: 0.07H19-DMR: 0.57 | 8.1 | |
| SDHAF2 (2) | LOH | LOH | KvDMR: 0.01H19-DMR: 0.94 | > 10 | KvDMR: 0.59H19 DMR: 0.52 |
| SDHAF2 (3) | LOH | LOH | KvDMR: 0.001H19-DMR:0.82 | > 10 | |
| SDHAF2 (4) | LOH | n.i | KvDMR: 0.03H19-DMR: 0.97 | >10 | |
| SDHAF2 (5) | LOH | LOH (maternal) | KvDMR: 0.08H19-DMR: 0.79 | 9.8 | KvDMR: 0.47H19 DMR: 0.53 |
| SDHAF2 (6) | No LOH | No LOH | KvDMR: 0.63H19-DMR: 0.57 | 0.9 | KvDMR: 0.57H19 DMR: 0.54 |
| SDHAF2 (7) | LOH | LOH (maternal) | KvDMR: 0.22H19-DMR: 0.81 | 3.7 | KvDMR: 0.37H19 DMR: 0.47 |
| SDHAF2 (8) | LOH | LOH | KvDMR: 0.03H19-DMR: 0.9 | > 10 | |
| SDHAF2 (9) | LOH | LOH | KvDMR: 0.0001H19-DMR: failed | - |
LOH: loss of heterozygosity. n.i : not informative.