Table 1.
Clinical characteristics of individuals with OSCS and Wilms tumor.
| Case | 1 | 2 | 3 | 4 |
|---|---|---|---|---|
| Patient characteristics | ||||
| Age at last follow-up | 29 y | 12 y | 1 y | 7 y |
| Sex | F | F | F | F |
| Age at diagnosis of WT | 2 y | 12 y | 7 m | 3 y |
| Age at diagnosis of OSCS | 24 y | 3 y | 7 m | 3 y |
| gDNA (NC_000023.10) | g.(63395050_63495049)del | g.63412110G > A | g.(62855819_63499639)del | g.63412611_63412612delCA |
| cDNA (NM_152424.3) | No mRNA | c.1057C > T | No mRNA | c.555_556delTG |
| Protein (NP_689637) | No protein | p.(Arg353*) | No protein | p.(Ala187*) |
| De novo/familial | De novo | De novo | De novo | De novo |
| Clinical features | ||||
| Birthweight(g)/gestation (w) | 3012/41 | NA/36 | 2655/36 | 3770/39 |
| Bony sclerosis | + | + | + | + |
| Bony striations | + | + | + | + |
| Hearing impairment | + | + | + | + |
| Orofacial clefting | + | + | + | + |
| Developmental delay | + | + | + | + |
| Macrocephaly | + | + | + | + |
| Tumor features | ||||
| Anaplasia | − | Diffuse | − | − |
| Histological composition | PE | PB | PE | PB |
| Nephrogenic rests | − | − | − | − |
| Relapse | − | − | − | − |
| Stage at diagnosis | I (for each tumor) | III | I | III |
| Laterality | Bilateral | Unilateral | Unilateral | Unilateral |
| Metastases | − | 6/6 Retrocaval nodes | − | − |
m months, NA not available, PB predominantly blastemal, PE predominantly epithelial, w weeks, y years.