Table 1. Genetic, epigenetic and clinical features of monomorphic epithelial Wilms tumours.
Case number | TRIM28 mutations* | Protein* | Sex | Age of onset | Features | Outcome |
---|---|---|---|---|---|---|
37 | c.525_526del in kidney with LOH in tumour | p.(Glu175Aspfs*29) | M | 39 m | Unilateral, stage 1, monomorphic epithelial | Alive at 23 years |
39 | c.525_526del in blood with LOH in tumour | p.(Glu175Aspfs*29) | F | 8 m | Bilateral, monomorphic epithelial | Alive at 20 years |
Mother of 37 & 39 | c.525_526del in blood | p.(Glu175Aspfs*29) | F | NA | No childhood tumour | Alive |
W117 | c.1935delinsGA and exon 1 methylation in tumour | p.(Phe645Leufs*30) | M | 7 m | Unilateral, stage 1, monomorphic epithelial | Alive at 26 years |
249 | c.1746_1747delinsC with assumed LOH in tumour | p.(Glu583Argfs*93) | M | 8 m | Stage 1, monomorphic epithelial | Alive at 30 years |
399 | c.1746_1747delinsC with LOH in tumour | p.(Glu583Argfs*93) | F | 5 m | Stage 1, monomorphic epithelial | Alive at 29 years |
SCTBN 88 | No mutation or methylation detected | F | 18 m | Stage 1, monomorphic epithelial. PLNR† | Unknown |
† PLNR, perilobar nephrogenic rest