Clinical outcome of prophylactic oophorectomy in BRCA1/BRCA2 mutation carriers and events during follow-up

Abstract

A retrospective study was performed to assess the histopathologic findings in high-risk women undergoing bilateral prophylactic (salpingo)-oophorectomy. The medical files of BRCA1 or BRCA2 mutation carriers and members of a hereditary breast/ovarian cancer (HBOC) family, who had undergone prophylactic surgery, were reviewed. In all, 38 women underwent a bilateral oophorectomy (26 BRCA1, three BRCA2 and nine HBOC, respectively). A total of 90 women underwent bilateral salpingo-oophorectomy (58 BRCA1, six BRCA2, one BRCA1 and 2, 25 HBOC, respectively). At the time of salpingo-oophorectomy, five of 58 BRCA1 carriers (8.6%) were diagnosed with an occult carcinoma: two fallopian tube carcinomas, two ovarian carcinomas and one case was defined as a fallopian tube/ovarian carcinoma. No occult carcinomas were found in the other groups. Of the 38 patients, who underwent a bilateral oophorectomy (mean follow-up 45 months), three of 26 BRCA1 mutation carriers (3.4 in 100 women-years) developed peritoneal papillary serous carcinoma (PPSC) during follow-up. So far, no PPSC have occurred in the 90 women, who underwent a salpingo-oophorectomy (mean follow-up 12 months), including 58 BRCA1 carriers (0 in 60 in women-years). These results contribute to the thesis that BRCA1 germline mutation carriers are not only at risk for ovarian cancer, but also for fallopian tube carcinoma and peritoneal papillary serous carcinoma. Our data suggest that PPSC risk among BRCA2 carriers is lower than among BRCA1 carriers.

Figure 1

Endometrioid adenocarcinoma (case patient 1), obliterating the lumen of the fallopian tube with a diameter of 2.5 mm (haematoxylin (H&E)), magnification × 50). (B) Negative P53 staining of the same tumour in (A) (magnification × 200). (C) Microscopic serous papillary adenocarcinoma (case patient 2), 1.0 cm in diameter (H&E, magnification × 100). (D) Overexpression of P53 of the same tumour in (C) (magnification × 200). (E) Poorly differentiated adenocarcinoma (case patient 3), 5 mm in diameter (H&E, magnification × 25). (F) Positive P53 staining of the same tumour in (E) (magnification × 200). (G) Invasive serous papillary adenocarcinoma (case patient 4), with a diameter of 8 mm. Note the formation of complex papillae (H&E, magnification × 100). (H) The same tumour as (H), P53 positive (magnification × 200). (I) Serous papillary adenocarcinoma (case patient 5) with mitotic activity (H&E, magnification × 100). (J) The same tumour as (I), P53 positive (magnification × 200).