Table 2.
Cancer predisposition syndromes (CPS) identified in 272 patients. Indicated are the number of patients per CPS. In 3 patients, multiple CPS were diagnosed. Consensus recommendations are referenced in the column on the right. Recommendations depending on the underlying gene/pathogenic variant are marked by a sharp
| Syndrome | No. of patients | Surveillance recommendations | Surveillance status |
Reference | ||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Recommended | Not recommended | Not stated/unclear | Oncological treatment or follow-up | Specialized CPS surveillance |
CPS-specific surveillance |
Regular consultations but no CPS-specific surveillance | No surveillance or status unknown | |||
| Trisomy 21 | 120 | 120 | 11 | 0 | 0 | 64 | 45 | 21 | ||
| Neurofibromatosis type 1 | 48 | 48 | 19 | 4 | 7 | 5 | 13 | 28 | ||
| Retinoblastoma predisposition | 10 | 10 | 4 | 0 | 0 | 1 | 5 | 19 | ||
| Tuberous sclerosis complex | 9 | 9 | 2 | 0 | 4 | 0 | 3 | - | ||
| Diamond-Blackfan anemia | 8 | 8 | 0 | 7 | 0 | 0 | 1 | 21 | ||
| Multiple endocrine neoplasia type 2A | 8 | 8 | 0 | 3 | 4 | 0 | 1 | 27 | ||
| Noonan syndrome # | 7 | 1 | 1 | 5 | 1 | 0 | 0 | 4 | 2 | 25 |
| Overgrowth syndrome # | 7 | 7 | 0 | 4 | 0 | 1 | 2 | 18 | ||
| Beckwith-Wiedemann syndrome | 5 | 5 | 0 | 4 | 0 | 0 | 1 | 18 | ||
| Fanconi anemia | 4 | 4 | 1 | 2 | 0 | 0 | 1 | 21 | ||
| Oculocutaneous albinism | 4 | 4 | 0 | 0 | 1 | 1 | 2 | |||
| Trisomy 18 | 4 | 4 | 0 | 0 | 0 | 2 | 2 | 18 | ||
| Multiple cartilaginous exostoses | 3 | 3 | 0 | 1 | 0 | 0 | 2 | |||
| Peutz-Jeghers syndrome | 3 | 3 | 0 | 0 | 2 | 0 | 1 | 16 | ||
| Ataxia teleangiectasia | 2 | 2 | 0 | 0 | 0 | 1 | 1 | 21 | ||
| CLOVES syndrome | 2 | 2 | 0 | 1 | 0 | 0 | 1 | 18 | ||
| Li-Fraumeni syndrome | 2 | 2 | 1 | 1 | 0 | 0 | 0 | 20 | ||
| Lynch syndrome | 2 | 2 | 2 | 0 | 0 | 0 | 0 | 24 | ||
| Neurofibromatosis type 2 | 2 | 2 | 2 | 0 | 0 | 0 | 0 | 28 | ||
| Rhabdoid tumor predisposition syndrome # | 2 | 2 | 2 | 0 | 0 | 0 | 0 | 17 | ||
| Rubinstein-Taybi syndrome | 2 | 2 | 0 | 0 | 1 | 1 | 0 | 25 | ||
| Sotos syndrome | 2 | 2 | 0 | 0 | 0 | 0 | 2 | 25 | ||
| Von-Hippel-Lindau syndrome | 2 | 2 | 1 | 0 | 0 | 0 | 1 | 22 | ||
| ATRX syndrome | 1 | 1 | 0 | 0 | 0 | 1 | 0 | |||
| Carney complex | 1 | 1 | 0 | 0 | 1 | 0 | 0 | |||
| Denys-Drash syndrome | 1 | 1 | 0 | 0 | 1 | 0 | 0 | 18 | ||
| DICER1 syndrome | 1 | 1 | 0 | 1 | 0 | 0 | 0 | 23 | ||
| Dyskeratosis congenita | 1 | 1 | 1 | 0 | 0 | 0 | 0 | 21 | ||
| Glykogenosis type VI | 1 | 1 | 0 | 0 | 0 | 1 | 0 | 16 | ||
| Cardiofaciocutaneous syndrome | 1 | 1 | 0 | 0 | 0 | 1 | 0 | 25 | ||
| Congenital amegacaryocytic thrombocytopenia | 1 | 1 | 0 | 1 | 0 | 0 | 0 | |||
| LEOPARD syndrome | 1 | 1 | 0 | 0 | 0 | 1 | 0 | 25 | ||
| Bruton syndrome | 1 | 1 | 0 | 0 | 0 | 0 | 1 | |||
| Microdeletion syndrome | 1 | 1 | 1 | 0 | 0 | 0 | 0 | |||
| Polyposis coli | 1 | 1 | 0 | 0 | 1 | 0 | 0 | 16 | ||
| SAMD9L | 1 | 1 | 1 | 0 | 0 | 0 | 0 | 21 | ||
| Shwachman-Diamond syndrome | 1 | 1 | 0 | 1 | 0 | 0 | 0 | 21 | ||
| Trisomy 13 | 1 | 1 | 0 | 0 | 0 | 0 | 1 | |||
| WAGR syndrome | 1 | 1 | 1 | 0 | 0 | 0 | 0 | 18 | ||
| 13q deletion syndrome | 1 | 1 | 0 | 0 | 0 | 0 | 1 | |||
| 17q deletion syndrome | 1 | 1 | 0 | 0 | 0 | 0 | 1 | |||