Table 1:
Summary of tumor risks and surveillance recommendations
| Syndrome | Molecular variant |
Estimated WT Risk |
Other neoplasms |
WT surveillance? |
Other surveillance? |
Follows general surveillance protocol? |
|---|---|---|---|---|---|---|
| Beckwith-Wiedemann Syndrome / Spectrum * | IC1 GOM | 20% | HB ACC Rhabdo Others | Yes | HB | Yes |
| pUPD 11p15.5 | 8% | HB ACC Rhabdo | Yes | HB | Yes | |
| IC2 LOM | ~1% | HB | Yes | HB | Yes | |
| CDKN1C | <<1% | Neuroblastoma | No | Neuroblastoma | No | |
| Others | 4% - 10% | HB ACC Rhabdo | Yes | HB | Yes | |
| WAGR | 11p13 del | 45% - 60% | Germ cell tumor | Yes | No | Yes |
| WT1-related Disorders | WT1 | 38% - 43% | Germ cell tumor | Yes | No | Yes |
| Simpson Golabi Behmel Syndrome | GPC3 | 5.1 | HB | Yes | HB | Yes |
| Perlman Syndrome | DIS3L2 | 70% | No | Yes | No | Yes |
| Bohring Opitz Syndrome | ASXL1 | >1% | HB | Yes | HB | Yes |
| Trisomy 18 | T18 | >1% | HB | Shared decision making | HB | Consideration of WT surveillance until 12 years of age |
| Osteopathic Striata with Cranial Sclerosis | AMER1 | >5% | No | Shared decision making | No | Consideration of surveillance until 12 years of age |
| Mulibrey Nanism | TRIM37 | 8% | RCC Thyroid Cancer Thecomas | Yes | No | Yes |
| PIK3CA-related Overgrowth Syndrome | PIK3CA | >1% in CLOVES, <1% in others | No | Shared decision making in CLOVES | No | Yes |
| 2p24 dup/2q37 del | 2p24/2q37 | Undefined | Neuroblastoma | Shared decision making | Neuroblastoma in discussion with family | Yes |
| Sotos Syndrome | NSD1 | <1% | Leukemia Embryonal tumors Pineoblastoma | No | No | No |
| Weaver Syndrome | EZH2 | <1% | Neuroblastoma | No | Neuroblastoma | No |
*
Acceptable risk is 1% in North America and 5% in most of Europe. This leads to different risk thresholds for tumor screening guidelines. These guidelines are based on the North American risk threshold of 1%.