Table 2.
Characteristics of children with a defined or potential tumor predisposition syndrome
| No | Gender | Age (years) | Tumor | Other findings | Assessment CGs | Assessment based on | Variant | Significance variant | Variant related to tumor |
|---|---|---|---|---|---|---|---|---|---|
| 1 | F | 1 | Wilms tumor | Nephrogenic rest other kidney | ++ | 1 | c.1-?_646 + ?del in WT1 | Pathogenic | Yes |
| 2 | F | 15 | Renal cell carcinoma | Cyst other kidney, family history of leiomyomas | ++ | 1, 2, 3, 4 | c.-23-?_*148 + ?del in FH | Pathogenic | Yes |
| 3 | F | 3 | Wilms tumor | ++ | 1 | c.1216_1223del p.(Ser406fs) in WT1 | Pathogenic | Yes | |
| 4 | F | 8 | Optic nerve glioma | Axillary freckling, CAL spots, developmental delay | ++ | 1, 2, 4, 5 | c. (?_5206_5546_?) del, p.?) in NF1 | Pathogenic | Yes |
| 5 | M | 5 | Acute lymphoblastic leukemia | Father with ALL at 9 months of age | ++ | 1, 3 | deletion in exon 6 PAX5 | Unclear | Unknown |
| 6 | M | 11 | High grade glioma (gr III) | Family history of gastric, cervical and breast cancer | ++ | 1, 3 | c.2123A > G (p.His708Arg) in POLE | Unclear | Unknown |
| 7 | F | 10 | Renal angiomyolipoma | +− | 1 | c.152A > C (p.Glu51Ala) in TSC2 | Unclear | Unknown | |
| 8 | M | 7 | Inflammatory myofibroblastic tumor of left orbit | +− | 1 |
c.256G > A (p.Asp86Asn) in CDKN2B c.1039C > T (p.Gln347*) in PTCH2 |
Unclear | Unknown |
M male, F female, CAL café au lait, ++: double positive, +−: single positive, 1 tumor type, 2 medical history, 3 family history, 4 physical examination, 5 2D pictures, 6 3D picture