Table 1.
Demographics, epigenotypes from blood, and pathologic types of patients with Beckwith–Wiedemann syndrome-associated hepatoblastomas (BWS-HBs).
| This Report | The Literature | Total | |
|---|---|---|---|
| Total | 16 | 35 | 51 |
| Male | 5 (31%) | 16 (46%) | 21 (41%) |
| Female | 11 (69%) | 19 (54%) | 30 (59%) |
| Age of diagnosis min | Birth | in utero | in utero |
| Age of diagnosis max | 25 months | 22 years | 22 years |
| Epigenotype from Blood | 15 | 20 | 35 |
| upd(11)pat | 7 (47%) | 13 (65%) | 20 (57%) |
| IC2 LOM | 5 (33%) | 4 (20%) | 9 (26%) |
| Normal | 3 (20%) | n/a | 3 (9%) |
| Other | 0 | 3 (15%) | 3 (9%) |
| Pathology | 14 | 16 | 30 |
| Mixed epithelial | 14 (100%) | 16 (100%) | 30 (100%) |
| +Mesenchymal | 4 (29%) | 1 (6%) | 5 (17%) |
| +Cholangioblastic | 1 (7%) | 1 (6%) | 2 (7%) |
The table summarizes the following information for the cohort of new patients and those from the literature: sex, age of diagnosis, and epigenotype from blood (e.g., loss of methylation at KCNQ1OT1:TSS-DMR, gain of methylation at H19/IGF2:IG-DMR). The pathologic type of HB (e.g., mixed epithelial, mesenchymal, cholangioblastic) is also indicated.