. Author manuscript; available in PMC: 2021 Jun 16.

Published in final edited form as: Mod Pathol. 2020 Dec 16;34(5):994–1007. doi: 10.1038/s41379-020-00721-6

Table 1.

Clinicopathologic characteristics of synchronous endometrial and ovarian cancer cases arising in patients with DNA mismatch repair-deficiency associated syndromes

Case ID	Age at diagnosis (years)	Germline mutation	Site	Bilateral ovarian disease	Histology	Tumor grade	FIGO Stage	Myometrial invasion	Cervical invasion	LVI	Endometriosis	Clinical diagnosis	Somatic MMR LOH	MSIsensor score	Status	Follow up (years)
LS2- CMMRD	39	PMS2 p.S8fs* homozygous	Uterus		Endometrioid	G1	IIIC1	<50%	Yes	Yes		Synchronous primaries	No	5	DOC	7
LS2- CMMRD	39	PMS2 p.S8fs* homozygous	Ovary	Yes	Endometrioid	G1	IB				No	Synchronous primaries	No	8	DOC	7
LS3	41	MSH2 p.Q324fs* heterozygous	Uterus		Endometrioid; clear cell features	G2	IB	>50%	No	Yes		Synchronous primaries	No	55	NED	13
LS3	41	MSH2 p.Q324fs* heterozygous	Ovary	No	Clear cell		IA				No	Synchronous primaries	No	32	NED	13
LS4	49	PMS2 p.Q30* heterozygous	Uterus		Endometrioid	G1	IA	None	No	No		Synchronous primaries	Yes	35	AWD	9
LS4	49	PMS2 p.Q30* heterozygous	Ovary	No	Endometrioid	G2	IC				Yes	Synchronous primaries	Yes	31	AWD	9
LS5	49	MSH2 p.Y521* heterozygous	Uterus		Endometrioid	G1	II	Superficial	Yes	No		Synchronous primaries	No	15	NED	2
LS5	49	MSH2 p.Y521* heterozygous	Ovary	No	Endometrioid	G1	IA				Yes	Synchronous primaries	No	26	NED	2
LS6	56	MSH6 p.R1334P heterozygous	Uterus		Endometrioid	G1	IA	None	No	No		Synchronous primaries	No	ND	NED	1
LS6	56	MSH6 p.R1334P heterozygous	Ovary	No	Endometrioid	G1	IA				No	Synchronous primaries	No	ND	NED	1

AWD, alive with disease. CMMRD, constitutional mismatch repair deficiency; DOC, dead of other cause; LOH, loss of heterozygosity; LS, Lynch syndrome; LVI, lymphovascular space invasion; MMR, mismatch repair; NED, no evidence of disease; ND, not defined.