Table 1.
Clinical characteristics and genetic and epigenetic status of H19 and SNRPN regions in 45 germ cell tumors
| Patient number | Age/sex | Primary site | Pathology | % methyl H19 DMR | 11p15 SNP | ApaI site | % methyl SNRPN DMR | 15q11 SNP | HpaII site | Epigenotype H19/SNRPN | Reprogram. pathway | Methylated TSGs |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Extra‐gonadal tumors (n = 10) | ||||||||||||
| Teratomas (n = 5) | ||||||||||||
| 1 | 2 m/F | Sacrococcygeal | Teratoma | 44.7 | ND | ND | 41.8 | ND | Homo | MU/UM | Normal | 0 |
| 2 | 5 m/F | Mediastinum | Teratoma | 66.2 | ND | ND | 41.2 | ND | Hetero | MU/UM | Normal | 0 |
| 3 | 13 y/M | Mediastinum | Teratoma | 36.0 | ND | Hetero | 41.4 | ND | ND | MU/UM | Normal | 9 |
| 4 | 5 y/M | Pineral body | Immat. teratoma | 2.8 | ND | Homo | 0.4 | ND | ND | UU/UU | Abnormal | 1 |
| 5 | 14 y/M | Mediastinum | Immat. teratoma | 39.7 | ND | Hetero | 27.7 | ND | Homo | MU/UU | Abnormal | 1 |
| Yolk sac tumors (n = 5) | ||||||||||||
| 6 | 10 m/F | Sacrococcygeal | Yolk sac tumor | 65.5 | ND | Homo | 35.8 | ND | Hetero | MU/UM | Normal | 8 |
| 7 | 2 y/M | Stomach | Yolk sac tumor | 16.1 | ND | Hetero | 45.3 | ND | Hetero | UU/UM | Abnormal | 6 |
| 8 | 10 y/M | Mediastinum | Yolk sac tumor | 10.0 | ND | ND | 1.7 | ND | ND | UU/UU | Abnormal | 7 |
| 9 | 13 y/M | Mediastinum | Yolk sac tumor | 12.5 | ND | Homo | 6.7 | ND | Homo | UU/UU | Abnormal | 2 |
| 10 | 11 m/M | Retroperitoneum | Yolk sac tumor | 67.3 | ROH | Homo | 34.6 | ROH | ND | MM/UM | Abnormal | 1 |
| Gonadal tumors (n = 35) | ||||||||||||
| Teratomas (n = 4) | ||||||||||||
| 11 | 13 y/M | Testis | Immat. teratoma/choriocarcinoma | 1.7 | ND | Hetero | 1.5 | ND | Hetero | UU/UU | Normal | 2 |
| 12 | 4 y/F | Ovary | Immat. teratoma | 10.8 | UPD | Homo | 84.7 | UPD | Homo | UU/MM | Normal | 1 |
| 13 | 9 y/F | Ovary | Teratoma | 3.1 | ROH | Homo | 86.0 | ROH | Homo | UU/MM | Normal | 0 |
| 14 | 20 y/F | Ovary | Teratoma | 39.4 | ND | Hetero | 52.7 | ND | ND | MU/UM | Abnormal | 0 |
| Yolk sac tumors (n = 22) | ||||||||||||
| 15 | 18 m/M | Testis | Yolk sac tumor | 17.5 | ND | Homo | 14.7 | ND | Hetero | UU/UU | Normal | 3 |
| 16 | 18 m/M | Testis | Yolk sac tumor | 14.0 | ND | Hetero | 23.7 | ND | ND | UU/UU | Normal | 2 |
| 17 | 2 y/M | Testis | Yolk sac tumor | 15.0 | ND | Hetero | 8.6 | ND | Homo | UU/UU | Normal | 5 |
| 18 | 9 y/F | Ovary | Yolk sac tumor/dysgerminoma | 20.2 | ND | Homo | 5.4 | ND | Homo | UU/UU | Normal | 5 |
| 19 | 13 y/F | Ovary | Yolk sac tumor | 20.2 | ND | Hetero | 12.9 | ND | Hetero | UU/UU | Normal | 8 |
| 20 | 14 y/F | Ovary | Yolk sac tumor/teratoma | 29.0 | ND | Homo | 6.7 | ND | Hetero | UU/UU | Normal | 6 |
| 21 | 38 y/M | Testis | Yolk sac tumor./embryonal ca. | 7.4 | ND | Homo | 2.2 | ND | Homo | UU/UU | Normal | 0 |
| 22 | 6 y/F | Ovary | Yolk sac tumor/immat. teratoma | 12.9 | ROH | Homo | 81.4 | ROH | Homo | UU/MM | Normal | 1 |
| 23 | 11 y/F | Ovary | Yolk sac tumor | 19.1 | ROH | Homo | 70.6 | ROH | Homo | UU/MM | Normal | 7 |
| 24 | 9 y/F | Ovary | Yolk sac tumor | 15.9 | ND | Homo | 53.1 | ND | Homo | UU/UM | Abnormal | 8 |
| 25 | 6 m/M | Testis | Yolk sac tumor | 38.7 | ND | Hetero | 17.4 | ND | Homo | MU/UU | Abnormal | 7 |
| 26 | 11 m/M | Testis | Yolk sac tumor | 41.8 | ND | Hetero | 19.2 | ND | Homo | MU/UU | Abnormal | 6 |
| 27 | 18 m/M | Testis | Yolk sac tumor | 36.4 | ND | Hetero | 17.8 | ND | Hetero | MU/UU | Abnormal | 6 |
| 28 | 18 m/M | Testis | Yolk sac tumor | 42.0 | ND | Homo | 29.3 | ND | Homo | MU/UU | Abnormal | 3 |
| 29 | 2 y/M | Testis | Yolk sac tumor | 39.4 | ND | ND | 11.5 | ND | Homo | MU/UU | Abnormal | 8 |
| 30 | 1 m/M | Testis | Yolk sac tumor | 57.5 | ND | Homo | 39.4 | ND | Homo | MU/UM | Abnormal | 6 |
| 31 | 9 y/F | Ovary | Yolk sac tumor | 33.6 | ND | Hetero | 48.7 | ND | Homo | MU/UM | Abnormal | 5 |
| 32 | 11 y/F | Ovary | Yolk sac tumor | 34.1 | ND | Homo | 40.3 | ND | Homo | MU/UM | Abnormal | 3 |
| 33 | 14 y/F | Ovary | Yolk sac tumor | 43.7 | ND | Homo | 58.5 | ND | Hetero | MU/UM | Abnormal | 4 |
| 34 | 18 m/F | Ovary | Yolk sac tumor/dysgerminoma | 77.9 | ROH | Homo | 35.1 | ROH | Hetero | MM/UM | Abnormal | 7 |
| 35 | 6 y/F | Ovary | Yolk sac tumor/immat. teratoma | 72.8 | ROH | Homo | 56.3 | ROH | Homo | MM/UM | Abnormal | 9 |
| 36 | 33 y/M | Testis | Yolk sac tumor/embryonal ca. | 47.9 | ND | Homo | 37.7 | ND | Homo | MU/UM | Abnormal | 1 |
| Seminomas (n = 9) | ||||||||||||
| 37 | 5 m/F | Ovary | Dysgerminoma | 22.3 | ND | Hetero | 12.5 | ND | Hetero | UU/UU | Normal | 0 |
| 38 | 8 y/F | Ovary | Dysgerminoma | 28.2 | ND | Homo | 14.9 | ND | Homo | UU/UU | Normal | 0 |
| 39 | 8 y/F | Ovary | Dysgerminoma | 23.4 | ND | Homo | 13.4 | ND | Hetero | UU/UU | Normal | 0 |
| 40 | 11 y/F | Ovary | Dysgerminoma | 15.5 | ND | Hetero | 4.5 | ND | ND | UU/UU | Normal | 7 |
| 41 | 13 y/F | Ovary | Dysgerminoma | 9.7 | ND | Homo | 9.2 | ND | Homo | UU/UU | Normal | 0 |
| 42 | 31 y/M | Testis | Seminoma | 14.8 | ND | Homo | 5.7 | ND | Hetero | UU/UU | Normal | 0 |
| 43 | 34 y/M | Testis | Seminoma | 9.5 | ND | Hetero | 10.2 | ND | Hetero | UU/UU | Normal | 0 |
| 44 | 38 y/M | Testis | Seminoma | 12.1 | ND | Hetero | 31.8 | Hetero | ND | UU/UU | Normal | 0 |
| 45 | 42 y/M | Testis | Seminoma | 9.4 | ND | Hetero | 3.1 | ND | Hetero | UU/UU | Normal | 0 |
% methyl., % methylation; Epigenotype, see text; Reprogram., Reprogramming; TSGs, tumor suppressor genes; m, months; y, years; F, female; M, male; ND, not done; ROH, retention of heterozygosity; UPD, uniparental disomy; Homo, homozygosity; Hetero, heterozygosity; Immat., immature; ca, carcinoma; DMR, differential methylated region; SNP, single‐nucleotide polymorphism.