. 2018 Jun 15;25:94–97. doi: 10.1016/j.gore.2018.06.008

Table 1.

Genetic mutation profiles.

Original cERMS Somatic Testing	Second cERMS Somatic Testing^a	Sertoli Leydig Cell Tumor Somatic Testing	Patient Germline Testing
DICER1	DICER1	DICER1	DICER1
c.904-1G > C (splice acceptor)	c.904-1G > C (splice acceptor)	c.904-1G > C (splice acceptor)	c.904-1G > C (splice acceptor)
c.5425G > A (p.G1809R)	c.5439G > A (p.E1813N)	c.5439G > A (p.E1813D)
BCOR c.3339del (p.S1113Rfs^46)
BRCA2 c.2348 T > C (p.V783A)^b		BRCA2 c.2348 T > C (p.V783A)^⁎	BRCA2 c.2348 T > C (p.V783A)^⁎
PALB2 c.2978C > T (p.T993 M)^b		PALB2 c.2978C > T (p.T993 M)^⁎	PALB2 c.2978C > T (p.T993 M)^⁎
MLH1 c.2978C > T (p.T993 M)^b			MLH1 c.2978C > T (p.T993 M)^⁎

cERMS, cervical embryonal rhabdomyosarcoma.

Somatic testing for DICER1 mutation only due to small sample size requiring microdissection.

Variant of unknown significance.