Table 2.

Review of reported cases of gonadoblastoma with WT1 exonic point pathogenic variants.

Case no.	Author, year of publication	Age at presentation (years)	Karyotype	Exon /type of pathogenic variant	Pathogenic variant (previously described using P19544)	External genitalia phenotype	Internal genitalia	GB/age at diagnosis (years)	WT/age at diagnosis if P or last follow-up if A (years)	NP/age at diagnosis if P or last follow-up if A (years)
1.	Pelletier et al. 1991	NA	46,XY	9/missense	p.Arg462Trp (p.Arg394Trp)	Atypical	RG: dysgenetic LG: dysgenetic MS: P	P/NA	P/NA	P/NA
2.	Pelletier et al. 1991	NA	46,XY	8/missense	p.Arg434His (p.Arg366His)	Female	RG: dysgenetic LG: streak MS:A	P/NA	A	P/NA
3.	Jeanpierre et al. 1998	3	46,XY	9/missense	p.Arg462Trp (p.Arg394Trp)	Atypical	NA	P/4.8	A/6	P/3.1
4.	Koshaka et al.1999	At birth	46,XY	9/nonsense	p.Arg458* (p.Arg390*)	Atypical	Single dysgenetic abdominal gonad with GB MS:P	P/NA	A/NA	P/8
5.	Fukuzawa et al. 2002	0.9	46,XY	7/missense	p.Met410Arg (p.Met342Arg)	Female	RG: abdominal, GB LG: abdominal, GB MS: P	P/8.8	A/8.8	P/0.9
6.	Auber et al. 2003	NA	46,XY	9/missense	p.Arg462Trp (p.Arg394Trp)	Atypical	RG: testes LG: dysgenetic, GB MS:A	P/3	A/NA	P/NA
7.	Maesaka et al. 2006	NA	46,XY	7/missense	p.Met410Arg (p.Met342Arg)	Female	Streak abdominal gonad with GB MS:P	P/8	A/NA	P/1
8.	Regev et al. 2008	At birth	46,XY	1/nonsense	p.Tyr177* (p.Tyr109*)	Atypical	RG: abdominal, GB LG: abdominal testes MS:P	P/1	A/6	NA
9.	Nso Roca et al. 2009	NA	46,XY	8/missense	p.Arg434His (p.Arg366His)	Atypical	NA	P/NA	A/NA	P/0.7
10.	Tanteles et al. 2011	1	47,XXY	9/missense	p.Arg462Trp (p.Arg394Trp)	Female	RG: abdominal, GB LG: abdominal, GB MS: NA	P/NA	A/NA	P/1
11.	Patel et al. 2013	At birth	46,XY	8/missense	p.Glu437Lys (p.Glu369Lys)	Female	RG: abdominal, GB LG: abdominal , GB MS:P	P/0.6	A/1.1	P/0.9
12.	Mazen et al. 2017	0.4	46,XY	9/missense	p.Arg462Trp (p.Arg394Trp)	Atypical	Single dysgenetic abdominal gonad with GB MS:P	P/0.75	A/4	A/4
13.	Souza et al. 2018	At birth	46,XY	1/nonsense	p.Gln142*	Atypical	One gonad dysgenetic, other with GB MS: NA	P/4	A/9	P/4
14.	This study (P4a)	26	46,XY	9/missense	p.Arg458Gln (p.Arg390Gln)	Atypical	RG: abdominal, sysgenetic LG: abdominal, GB MS:P	P/28	A/28	P/26
15.	This study (P4b)	17	46,XY	9/missense	p.Arg458Gln (p.Arg390Gln)	Female	RG: abdominal, GB LG: abdominal, GB MS:P	P/17.5	A/19	A/19

A, absent; DDS, Denys–Drash syndrome; FS, Frasier syndrome; GB, gonadoblastoma; GD, gonadal dysgenesis; LG, left gonad; MS, Mullerian structures; NA, not available; NP, nephropathy; P, present; RG, right gonad; WT, Wilms’ tumor.