Outcome of unexpected adnexal neoplasia discovered during risk reduction salpingo-oophorectomy in women with germ-line BRCA1 or BRCA2 mutations

- Adnexal neoplasia was found in ~ 5% of risk reduction surgeries for BRCA1 or BRCA2 mutations.
- Recurrences developed from 9 to 17% over a median of 5 year follow-up.
- There were no ovarian cancer-related deaths at 5 years.

ObjectiveThis study computed the risk of clinically silent adnexal neoplasia in women with germ-line BRCA1 or BRCA2 mutations (BRCAm +) and determined recurrence risk.MethodsWe analyzed risk reduction salpingo-oophorectomies (RRSOs) from 349 BRCAm + women processed by the SEE-FIM protocol and addressed recurrence rates for 29 neoplasms from three institutions.ResultsNineteen neoplasms (5.4%) were identified at one institution, 9.2% of BRCA1 and 3.4% of BRCA2 mutation-positive women. Fourteen had a high-grade tubal intraepithelial neoplasm (HGTIN, 74%). Mean age (54.4) was higher than the BRCAm + cohort without neoplasia (47.8) and frequency increased with age (p < 0.001). Twenty-nine BRCAm + patients with neoplasia from three institutions were followed for a median of 5 years (1-8 years.). One of 11 with HGTIN alone (9%) recurred at 4 years, in contrast to 3 of 18 with invasion or involvement of other sites (16.7%). All but two are currently alive. Among the 29 patients in the three institution cohort, mean ages for HGTIN and advanced disease were 49.2 and 57.7 (p = 0.027).ConclusionsAdnexal neoplasia is present in 5-6% of RRSOs, is more common in women with BRCA1 mutations, and recurs in 9% of women with HGTIN alone. The lag in time from diagnosis of the HGTIN to pelvic recurrence (4 years) and differences in mean age between HGTIN and advanced disease (8.5 years) suggest an interval of several years from the onset of HGTIN until pelvic cancer develops. However, some neoplasms occur in the absence of HGTIN.