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 | Endome-triosis | Clinical diagnosis | Somatic MMR LOH | MSI-sensor 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 | ||
Ovary | Yes | Endometrioid | G1 | IB | No | 8 | ||||||||||
LS3 | 41 | MSH2 p.Q324fs* heterozygous | Uterus | Endometrioid; clear cell features | G2 | IB | >50% | No | Yes | Synchronous primaries | No | 55 | NED | 13 | ||
Ovary | No | Clear cell | IA | No | 32 | |||||||||||
LS4 | 49 | PMS2 p.Q30* heterozygous | Uterus | Endometrioid | G1 | IA | None | No | No | Synchronous primaries | Yes | 35 | AWD | 9 | ||
Ovary | No | Endometrioid | G2 | IC | Yes | 31 | ||||||||||
LS5 | 49 | MSH2 p.Y521* heterozygous | Uterus | Endometrioid | G1 | II | Superficial | Yes | No | Synchronous primaries | No | 15 | NED | 2 | ||
Ovary | No | Endometrioid | G1 | IA | Yes | 26 | ||||||||||
LS6 | 56 | MSH6 p.R1334P heterozygous | Uterus | Endometrioid | G1 | IA | None | No | No | Synchronous primaries | No | ND | NED | 1 | ||
Ovary | No | Endometrioid | G1 | IA | No | ND |
