Table 3.
Blood, liver, and hepatoblastoma (HB) epigenotype results and CTNNB1 mutation status for BWS-HBs.
| ID | BWS Clinical Score | BWS Blood Results | BWS Liver Results |
BWS HB Results |
CTNNB1 Mutation |
|---|---|---|---|---|---|
| 1 | 9 | upd(11)pat | upd(11)pat | upd(11)pat | c.101G>T, c.98C>T |
| 2 | 10 | upd(11)pat | upd(11)pat | upd(11)pat | c.99_101dup |
| 3 | 8 | upd(11)pat | \ | upd(11)pat | c. 65_100del |
| 4 | 10 | upd(11)pat | \ | \ | c.100G>A |
| 5 | 10 | upd(11)pat | \ | \ | \ |
| 6 | 10 | upd(11)pat | \ | \ | \ |
| 7 | 3 | upd(11)pat | \ | \ | \ |
| 8 | 12 | IC2 LOM | IC2 LOM | IC2 LOM | \ |
| 9 | 6 | IC2 LOM | IC2 LOM | IC2 LOM | c.85_102del |
| 10 | 5 | IC2 LOM | IC2 LOM/IC1 GOM | IC2 LOM/IC1 GOM | c.122C>T |
| 11 | 6 | IC2 LOM | \ | \ | \ |
| 12 | 10 | IC2 LOM | \ | \ | \ |
| 13 | 3 | Normal | \ | IC2 LOM | c.14-28_125del |
| 14 | 2 | \ | IC1GOM | upd(11)pat | c.87_241+71del |
| 15 | 4 | Normal | IC1 GOM | upd(11)pat | c.95A>T |
| 16 | 6 | Normal | IC1 GOM | upd(11)pat | \ |
The table provides a summary of the blood, liver, and hepatoblastoma (HB) epigenotype results and the CTNNB1 mutation status for each BWS-HB. The BWS blood results for each patient are indicated and can include the following: upd(11)pat—paternal uniparental disomy of chromosome 11, IC2—loss of methylation at the KCNQ1OT1:TSS-DMR, IC2/IC1—partial loss of methylation at KCNQ1OT1:TSS-DMR and gain of methylation at H19/IGF2:IG-DMR, IC1—gain of methylation at the H19/IGF2:IG-DMR, and normal—no epigenetic abnormalities detected.