Table 8. Patients with an underlying cancer predisposition syndrome according to Jongmans’ and MIPOGG criteria.
| Diagnosis (patient ID) | CPS (gene) | Jongmans | MIPOGG |
|---|---|---|---|
| Precursor B-cell acute lymphoblastic leukemia (A1) | Li–Fraumeni syndrome (TP53) | – | – |
| Osteosarcoma (A2) | Li–Fraumeni syndrome (TP53) | – | – |
| Acute promyelocyte leukemia (B1) | Familial paraganglioma and pheochromocytoma syndrome (SDHC) | + | + |
| Acute myeloid leukemia (C1) | Hyperparathyroidism-Jaw tumor syndrome (CDC73) | – | + |
| Acute myeloid leukemia (E1) | Neurofibromatosis type 1 (NF1) | + | + |
| Malignant peripheral nerve sheath tumor1 (E2) | Neurofibromatosis type 1 (NF1) | + | + |
| Optic nerve glioma (E3) | Neurofibromatosis type 1 (NF1) | + | + |
| Pilocytic astrocytoma (E4) | Neurofibromatosis type 1 (NF1) | + | + |
| Osteosarcoma (F1) | Schwannomatosis/Noonan syndrome (LZTR1) | + | + |
| Plasmacytoid dendritic cell leukemia (G1) | Novel putative childhood leukemia cancer predisposition syndrome (biallelic DDX41) | + | + |
| Retinoblastoma (H1) | Familial retinoblastoma syndrome (RB1) | + | + |
| Retinoblastoma (H2) | Familial retinoblastoma syndrome (RB1) | + | + |
| Retinoblastoma (H3) | Familial retinoblastoma syndrome (RB1) | + | + |
| Retinoblastoma (H4) | Familial retinoblastoma syndrome (RB1) | + | + |
| Wilms tumor (I1) | Beckwith–Wiedemann syndrome (pUPD chr 11) | + | + |
| Subependymal giant cell astrocytoma (J1) | Tuberous sclerosis complex (TSC2) | + | + |
| Small cell carcinoma of the ovary (K1) | Rhabdoid tumor predisposition syndrome (SMARCA4) | – | – |
| Acute myeloid leukemia (L1) | Down syndrome (46,XY+21) | + | + |
| Acute myeloid leukemia (L2) | Down syndrome (46,XY+21) | + | + |
| Hodgkin lymphoma (L3) | Down syndrome (46,XX+21) | + | + |
| Precursor B-cell acute lymphoblastic leukemia (L4) | Down syndrome (46,XX+21) | + | + |
| Total number of patients with childhood cancer predisposition syndrome | 17/21 = 80.9% | 18/21 = 85.7% | |
| Precursor B-cell acute lymphoblastic leukemia (M1) | MUTYH–associated polyposis (MUTYH) | – | – |
| T-cell acute lymphoblastic leukemia (N1) | Familial breast and ovarian cancer (BRCA2) | – | – |
| T-cell acute lymphoblastic leukemia (O1) | Familial breast cancer (CHEK2) | – | – |
| Langerhans cell histiocytosis (N2) | Familial breast and ovarian cancer (BRCA2), oligodontia-colorectal cancer syndrome (AXIN2) | – | – |
| Malignant peripheral nerve sheath tumor 1 (P1) | Familial breast and ovarian cancer (PALB2) | + (fulfills due to NF1 variant, not counted below) | + (fulfills due to NF1 variant) |
| Neuroblastoma (Q1) | Familial adenomatous polyposis (APC) | + | – |
| Wilms tumor (Q2) | Familial adenomatous polyposis (APC) | + | + |
| Rhabdomyosarcoma (R1) | Ataxia telangiectasia (ATM) | – | – |
| Wilms tumor (S1) | Familial breast and ovarian cancer and familial neuroblastoma (BARD1) | – | – |
| Total number of patients with adult-onset cancer predisposition syndrome | 2/9 = 22.2% | 1/9 = 11.1% | |
+ fulfills the criteria,–does not fulfill the criteria.
1same patient carrying these variants, patient not counted in the adult-onset cancer predisposition syndrome.
Red: childhood cancer predispositions syndrome, Blue: adult-onset cancer predisposition syndrome.