Table 1.

Reported Wilms' tumour patients with TRIM28 variants in blood, kidney, and/or tumour (N = 46).

ID in original report [reference]	Mutation identified in:	Familial WT?	M/F	Age	Inheritance	Mutation	Histology		NR	LOH/IHC, other findings in tumour	FU
0477_01 [12]	Blood	Familial	F	24	Mat	p.Gly310Asp	Epithelial predominant†		NA	NA	NA
0477_02 [12]	Blood	Familial	M	84	Mat	p.Gly310Asp	Epithelial†		NA	NA	NA
0477_03 [12]	Blood	Familial	F	93	Mat	p.Gly310Asp	NA		NA	NA	NA
0498_01 [12] / 249 [14]	Blood & tumour	Familial	M	8	Mat	p.Glu583Argfs*93	Monomorphic epithelial†		NA	LOH	30
0498_02 [12] / 399 [14]	Blood & tumour	Familial	F	5	Mat	p.Glu583Argfs*93	Monomorphic epithelial		No	LOH	29
0498_03 [12]	Blood	Familial	F	6	NA	p.Glu583Argfs*93	Epithelial†		NA	NA	NA
0487_01 [12]	Blood	Familial	M	15	Mat	p.Thr144Hisfs*12	Epithelial predominant †		NA	NA	18
0487_02 [12]	Blood	Familial	M	18	NA	p.Thr144Hisfs*12	NA		NA	NA	NA
0506_01 [12] / 37 [14]	Blood & tumour	Familial	M	39	Mat	p.Thr176Profs*32	Monomorphic epithelial†		No	CN‐LOH, TRIM28 IHC loss	20
0506_02 [12] / 39 [14]	Blood & tumour	Familial	F	8	Mat	p.Thr176Profs*32	L	Monomorphic epithelial†	No	CN‐LOH, TRIM28 IHC loss	20
							R	Monomorphic epithelial†
7487_01 [12]	Blood	Isolated	F	118	Mat	p.Leu80Profs*11	Epithelial predominant with diffuse anaplasia†		NA	NA	3††
1982 [12]	Blood	Isolated	M	11	DN	p.Leu653Cysfs*23	L	Epithelial predominant†	NA	NA	15
							R	Epithelial predominant†
6530 [12]	Blood	Isolated	M	15	DN	p.Glu70Alafs*19	Epithelial + blastemal†		NA	NA	5
1969 [12]	Blood	Isolated	M	118	DN	Splice, c.840–2A>G	Epithelial + blastemal†		NA	NA	10
7574 [12]	Blood	Isolated	M	13	DN	p.*836Trpext*?	Epithelial predominant†		NA	NA	NA
0902 [12]	Blood	Isolated	F	12	Mat	p.Ser417*	Epithelial predominant†		NA	NA	NA
0692 [12]	Blood	Isolated	F	13	NA	p.Arg487*	L	NA	NA	NA	36
							R	NA
6671 [12]	Blood	Isolated	F	10	NA	p.Arg230*	L	Epithelial predominant†	NA	NA	5
							R	Epithelial predominant†
0796 [12]	Blood	Isolated	F	61	NA	p.Leu362*	NA		NA	NA	28
0866 [12]	Blood	Isolated	F	90	NA	p.Gln435Serfs*35	Epithelial predominant†		NA	NA	22
0936 [12]	Blood	Isolated	M	8	NA	p.Glu384*	NA		NA	NA	NA
1 [15]	Blood & tumour	Familial	F	5	Mat	p.Cys83Phefs*6	L	Epithelial type †	PLNR	CN‐LOH, TRIM28 IHC loss
							R	Epithelial type †
2 [15]	Blood & tumour	Familial	F	18	Mat	p.Cys83Phefs*6	Epithelial type†		PLNR	CN‐LOH, TRIM28 IHC loss	NA
3 [15]	Blood & tumour	Familial	M	69	Mat	p.Arg524Leufs*155	Mixed type†		PLNR	No LOH, TRIM28 IHC loss, mutations in DICER1 & AMER1	NA
4 [15]	Blood & tumour	Familial	M	7	Mat	p.Arg524Leufs*155	L	Epithelial type†	PLNR	CN‐LOH, TRIM28 IHC loss, NF1 mutation	NA
							R	Blastemal type†
5 [15]	Healthy kidney & tumour	Familial	F	6	NA	p.Gln283*	Epithelial type†		PLNR	NA	NA
6 [15]	Healthy kidney & tumour	Familial	F	7	NA	p.Gln283*	L	Epithelial type†	PLNR	NA	NA
							R	Nephroblastomatosis†
7 [15]	Both kidneys & tumour	Familial	M	6	Mat‡	p.Gln339*	L	Epithelial type†	PLNR	CN‐LOH, TRIM28 IHC loss	NA
							R	Epithelial type†
1 [16]	Blood & tumour	Familial	F	12	NA	p.Gln701*	L	Epithelial type†	NA	CN‐LOH	NA
							R	Epithelial type†	NA	CN‐LOH	NA
2 [16]	Blood & tumour	Familial	F	14	NA	p.Gln701*	L	Epithelial type†	NA	CN‐LOH	8
							R	Epithelial type†	NA	CN‐LOH	4
8 [15]	Both kidneys & tumour	Isolated	M	17	NA	Splice, c.586+2T>C	L	Nephroblastomatosis†	PLNR	CN‐LOH, TRIM28 IHC loss	NA
							R	Epithelial type†
9 [15]	Healthy kidney & tumour	Isolated	F	7	NA	p.Leu59Trpfs*34	Epithelial type†		PLNR	NA	NA
11 [15]	Healthy kidney & tumour	Isolated	F	75	NA	p.Cys174Argfs*4	L	Nephroblastomatosis†	PLNR	NA
							R	Epithelial type†
PAKVET [13]	Healthy kidney & tumour	NA	NA	13	NA	Splice, c.839+1G>A	Monomorphic epithelial		No	CN‐LOH	NA
10 [15]	Healthy kidney & tumour	Isolated	F	40	Mosaic§	p.Ala544Profs*132	Epithelial type with diffuse anaplasia†		No	NA	NA
12 [15]	Tumour||	Isolated	F	8	Somatic	p.Met389Argfs*2	Epithelial type†		NA	NA	NA
PADWNP [13]	Tumour||	Isolated	NA	18	Somatic	p.Gln233*	Monomorphic epithelial		No	CN‐LOH	NA
PAJMKN [13]	Tumour||	Isolated	NA	17	Somatic	p.Gly107Argfs*75	Monomorphic epithelial		No	CN‐LOH	NA
PAJMZF [13]	Tumour||	Isolated	NA	8	Somatic	p.Arg487*	Monomorphic epithelial		No	No LOH, promoter hypermethylation¶	NA
PADDLL [13]	Tumour||	Isolated	NA	6	Somatic	p.Phe645Leufs*29	Monomorphic epithelial		No	NA	NA
PAJPER [13]	Tumour||	Isolated	NA	15	Somatic	Splice, c.839+1G>A and p.Arg487*	Monomorphic epithelial		No	NA	NA
PAKSJN [13]	Tumour||	Isolated	NA	91	Somatic	p.Arg230*	Monomorphic epithelial		No	NA	NA
PAJNYM [13]	Tumour||	Isolated	NA	10	Somatic	Splice, c.340+2T>G	Monomorphic epithelial		No	CN‐LOH	NA
PAKYLT [6, 13]	Tumour||	Isolated	NA	NA	Somatic	Splice, c.839+1G>A	Anaplastic, epithelial		NA	CN‐LOH, TP53 mutation	NA
W117 [14]	Tumour||	Isolated	M	7	Somatic	p.Phe645Leufs*30	Monomorphic epithelial		No	No LOH, TRIM28 IHC loss, exon 1 hypermethylation	NA
WESK150 (this report)	Tumour||	Isolated	M	7	Somatic	p.Thr154Tyrfs*2	Epithelial type†		PLNR	CN‐LOH, TRIM28 IHC loss	NA

M, male; F, female; Age, age at Wilms' tumour diagnosis (months); DN, de novo; Mat, maternal; NR, nephrogenic rests; PLNR, perilobar nephrogenic rests; LOH, loss of heterozygosity; IHC, immunohistochemistry; CN‐LOH, copy‐neutral loss of heterozygosity; FU, duration of follow‐up (years); NA, Not available.

^†(Presumably) after preoperative chemotherapy.

^‡Assumed that mutation was inherited from mother, who was not tested but had bilateral Wilms' tumour at age 8 years.

^§Based on variant allele frequency.

^||Absent in adjacent kidney tissue.

^¶Not presumed to be responsible for silencing the wild‐type allele.

Variants are described on transcript NM_005762.2 according to the Human Genome Variation Society (HGVS) recommendations. ††Patient deceased. The protein annotation of the original publication has been changed according to HGVS recommendations.