Incidence of endometrial cancer or hyperplasia and ovarian cancer in female mismatch repair carriers undergoing risk reducing surgery
| Author | Sample size | Participant characteristics (%) | Women with personal history of cancer (%) | Age (years) (median (range)) at RRS | RRS type | Preoperative evaluation | No of cancers (% of sample size) | No of hyperplasias (% of sample size) |
| Schmeler et al31 | 61 | MMR: 61 (100%) | Not provided | 41 (20–63) | 47 (77%) TH-BSO 14 (23%) TH | Not performed | 3 (4.9%) EC. Genes not provided. 38, 48, 58 years. 0 (0%) OC | |
| Lachiewicz et al34 | 24 | MMR: 20 (83%) AC I/AC II/AC-like: 4 (17%) | Not provided | 47 (32–61) | 22 (92%) TH-BSO 1 (4%) BSO 1 (4%) SCH-BSO+LEEP | ES: 3/24 results available; 1 EC misdiagnosed as CAH, 2 correctly diagnosed as normal. TVUS: OC patient had ovarian cysts on preoperatively | 3 (12.5%) EC. Ages not provided. MLH1, MSH2, MSH6. 1 (4.2%) OC. Age not provided, MSH2 | |
| Karamurzin et al35 | 25 | MMR: 20 (80%) AC-II: 5 (20%) | 22 (88%) | 48 (36–61) | 18 (72%) TH-BSO 2 (8%) TH 5 (20%) TH-BSO +colectomy | ES: 9/24 results available; all negative for CAH or EC. TVUS: 1 patient with EC had abnormal findings | 2 (8%) EC in 56 years MLH1; 54 years MSH2; 44 years MSH2. 1 (4%) OC in 44 years, MSH2. | 3 (12%) CAH in MLH1, MSH2, AC-II 1 (4%) SH in the patient with OC |
| Downes et al36 | 25 | MMR: 23 (92%) EPCAM: 1 (4%) Unavailable: 1 (4%) | 2 (8%) had cancer at the time of RRS | 47 (34–59) | 23 (92%) TH-BSO 1 (4%) TH-USO 1 (4%) TH | ES: 3/25 available; 2 correctly detected CAH | 2 (8%) EC in 42 years, MSH2; 59 years MSH6. 0 (0%) OC | 6 (24%) CAH in 2×MLH1, 3×MSH2, 1×MSH6 |
| Tzortzatos et al24 | 41 | MMR: 41 (100%) | Not provided | 53 (40–77) | 32 (78%) TH-BSO 7 (17%) TH 2 (5%) BSO | EB: 1/41 available which missed EC | 3 (7.3%) EC in 49 years MLH1; 46 years MLH1; 42 years MSH2. 0 (0%) OC | 1 (2.4%) CAH in MLH1 |
| Bartosch et al37 | 39 (7 symptomatic) | MMR: 39 (100%) | 31 (80%) | 45 (32–73) | 36 (92%) TH-BSO 1 (3%) TH-USO 2 (5%) TH | EB: 10/39 available; 3 EH, 1 of which was actually EC | 3 (7.7%) EC, all asymptomatic, in 50 years MLH1; 44 years MLH1; 47 years MSH2. 0 (0%) OC | 6 (15.4%) EH; 4 were atypical. Atypical: 3×MLH1, 1×MSH2. Non-atypical: 2×MSH2 |
| Wong et al38 | 27 | MMR: 22 (81%) Basis of LS diagnosis unspecified: 5 (19%) | Not provided | 49 (36–61) | 25 (92%) TH-BSO 1 (4%) TH-USO 1 (4%) TH | ES: 12/27 available; 1 CH +11 normal IOE gross: 15/27 available; 8 abnormal including EC IOE histology: 14/27 available; 0 malignancies found (specimen with EC was not sent) | 1 (3.7%) EC in 57 years, mutation positive, specific gene unavailable | 2 (7.4%) CAH both in MSH2 |
| Fedda et al39 | 29 | MMR: 28 (97%) Unavailable: 1 (3%) | 18 (62%) | 50 (34–69) | 28 (97%) TH-BSO 1 (3%) TH-BS | EB: 11/29 available; 3 correctly diagnosed EH, 1 EH misdiagnosed as EC | 0 (0%) EC | 5 (17.2%) EH; 4 were atypical. Atypical: 2× MLH1, 1×MSH2, 1×MSH6 Non-atypical: MLH1 |
| Pistorius et al40 | 4 | MMR: 3 (75%) AC: 1 (25%) | 4 (100%) | (47–59) | 4 (100%) TH-BSO | TVUS: 4/4 normal | 2 (50%) EC. 49 years, AC-II; 47 years, MSH2 | |
| Piedimonte et al32 | 41 | MMR: 41 (100%) | Not provided | Not provided | 0 (0%) EC | 3 (20%); all atypical | ||
| Rush et al33 | 15 | MMR: 15 (100%) | 1 (6.7%) | 47 (38–68) | 15 (100%) BSO±TH | Not reported | 0 (0%) EC 0 (0%) OC | 0 (%) |
| Duenas et al41 | 66 | MMR: 66 (100%) | 33 (50%) | 49 (36–72) | 57 (86.4%) TH-BSO 8 (12.1%) TH 1 (1.5%) TH +salpingectomy | All 6 women diagnosed with cancer had normal screening prior to RRS | 6 (9.1%) EC, all asymptomatic 0 (0%) OC | |
| Eikenboom et al27 | 53 | MMR: 53 (100%) | Not provided | 51 | Exact number not provided for RRS patients only | 1 (1.5%) EC in MSH6 |
Number needed to treat is defined as the number of patients needed to undergo risk reducing surgery to detect endometrial/ovarian cancer or hyperplasia
AC, Amsterdam criteria; BS, bilateral salpingectomy; BSO, bilateral salpingo-oophorectomy; CAH, complex atypical hyperplasia; CH, complex hyperplasia without atypia; EB, endometrial biopsy; EC, endometrial cancer; EH, endometrial hyperplasia; ES, endometrial sampling; IOE, intraoperative evaluation; LEEP, loop electrosurgical excision procedure; LS, Lynch syndrome; MMR, mismatch repair; OC, ovarian cancer; RRS, risk reducing surgery; SCH, supracervical hysterectomy; SH, simple hyperplasia; TH, total hysterectomy; USO, unilateral salpingo-oophorectomy.