Table 1. Literature review—sarcomas with somatic DICER1 mutations.

Sarcoma type	Site	Sex	Age of Sarc. Dx	Case	Somatic DICER1 mutation(s)	Germline DICER1 mutation	Mutations in cis or in trans?	Clinically suspicious at time of sarcoma Dx?a	Evidence of DICER1 syndrome (age of Dx)	Reference
ERMS	Ovary	F	6y	1	c.5425G>A; p.G1809R	c.1196_1197dupAG; p.W400Sfs*59	Not known	Nob	CN (12y); MNG (13y)	de Kock et al, 2015
	Uterine cervix	F	13y	2	c.5113G>A; p.E1705K	c.3907_3908delCT; p.L1303Vfs*4	Not known	Yes	MNG (11y); LC (13y)	Foulkes et al, 2011 and de Kock et al, 2016
		F	14y	3	c.5438A>G; p.E1813G	c.3611_3616delACTACAinsT	Not known	Yes	MNG (14y)	Foulkes et al, 2011 and de Kock et al, 2016
		F	53y	4	c.5439G>T; p.D1813D	c.2457C>G; p.I813_Y819del	Not known	Yes	MNG (17y)	Rio Frio et al, 2011 and de Kock et al, 2016
		F	—	5	c.5428G>T; p.D1810Y	None identified	NA	No	—	Heravi-Moussavi et al, 2012
		F	13y	6	c.5437G>A; p.E1813K	c.3535_3538delTCTT; p.S1179Tfs*12	Not known	No	LC, likely PPB Type Ir	Tomiak et al, 2014
		F	Adult	7	c.5125G>A; p.D1709Nc	Not done	NA	—	—	Conlon et al, 2015
		F	44y	8	c.2062C>T; p.R688* & c.5438A>G; p.E1813G	None identified	Not known	No	None	de Kock et al, 2016
	Uterus	F	12y	9	c.5365-1G>T	None identified	NA	No	—	Doros et al, 2012
	Abdomen	—	—	10	c.4259_4261delGAG; p.1418_1420delE	Not done	NA	No	—	Doros et al, 2012
	Brain stem	F	21y	11	c.5125G>A (& LOH)	c.4050+1G>A	Not known	Yes	cERMSd	de Kock et al, 2014a
	Lower genital tracte	F	14y	12	c.5428G>C; p.D1810H	c.5387C>T, p.Q1783*	In trans	Nob	MNG (20y)	Fernández-Martínez et al, 2017
Anaplastic sarcoma	Kidney	F	21y	1	c.2233C>T; p.R745* & c.5437G>A; p.E1813K	None identified	Not known	No	—	Doros et al, 2014
		F	1.75y	2	c.5425G>A; p.G1809R	None identified	NA	No	—	Doros et al, 2014
		F	9y	3	c.5425G>A; p.G1809R	c.2062C>T; p.R688*	In trans	Yes	PPB Type I (8mo)	Wu et al, 2016a
		—	12y	4	c.5125G>A; p.D1709N & c.5138A>T; p.D1713V	Negative	Not known	No	—	Wu et al, 2014 meeting
		F	7mo	5	c.5438A>G; p.E1813G	c.2450delC; p.P817Lfs*15	In transf	Yes	ASK in CN (7mo)	Wu et al, 2016b
Liposarcoma	Site not stated	—	—	1	p.E1797Dg	Not done	NA	No	—	Kim et al, 2013
		—	—	2	p.E1797Dg	Not done	NA	No	—	Kim et al, 2013
Carcinosarcoma	Uterus	F	—	1	c.5425G>A; p.G1809R	c.2516C>T; p.S839F	In trans	No	—	Chen et al, 2015
		F	Adult	2	c.5437G>C; p.E1813Qh	Not done	NA	—	—	Conlon et al, 2015
	Ovary	F	—	3	c.5438A>G; p.E1813G	Suspected inactivation	In trans	No	—	Chen et al, 2015; Heravi-Moussavi et al, 2012
Undifferentiated sarc.	Ovary	F	10y	1	c.5125G>A; p.D1709N	c.5096-12G>A	Not known	Nob	SLCT (14y)	Schultz et al, 2016
STS (unknown subtype)	Site not stated	F	30-39y	1	p.G1809R	c.3665dupT; p.L1222fs*13	Not known	—	—	Schrader et al, 2016

Abbreviations: ASK=anaplastic sarcoma of kidney; CN=cystic nephroma; ERMS=embryonal rhabdomyosarcoma; F=female; LC=lung cysts; MNG=multinodular goitre; mo=months; NA=not applicable; PPB=pleuropulmonary blastoma; Sarc.=sarcoma; SLCT=Sertoli–Leydig cell tumour; STS=soft tissue sarcoma; y=years.

^aClinically suspicious for DICER1 syndrome.

^bDICER1 syndrome was not clinically suspected at time of sarcoma diagnosis, but later development of DICER1-associated lesion with or without germline mutation identification led to identification of the syndrome in these patients.

^cMutation identified in a metastasis from a primary cervical RMS.

^dcERMS from this patient not included in the table as no somatic testing was performed.

^eThe site of the ERMS was not reported in the publication; personal communication with the authors revealed the site to be in the lower genital tract.

^fNot definitive.

^gMutation found in tumour, but not confirmed to be somatic.

^hMutation identified within a rhabdomyosarcomatous component of a uterine carcinosarcoma.

—No data.

The asterisks shown at the end of certain mutations is HGVS nomenclature indicating a termination codon.