分子遺伝医学

Age of Salpingo-Oophorectomy and Risk of Peritoneal Carcinomatosis in Patients with a BRCA Mutation

Abstract

Stjepanovic N, Carrasco E, Gadea N, Gil-Moreno A, Perez A, Diaz B, Franco S, Cabrera S, Garcia A, Castellvi J, Oaknin A, Díez O, Bonache S, Gutiérrez-Enríquez S, Vilaro M and Balmaña J

Background: Women with BRCA1/2 germline mutations who undergo bilateral salpingo-oophorectomy (BSO) are left with a residual risk of peritoneal serous carcinoma (PSC). We aimed to identify the incidence and risk factors for the development of PSC after BSO in BRCA1/2 mutation carriers.
Methods: One-hundred-seventeen BRCA1/2 mutation carriers who underwent BSO were evaluated for further development of PSC. The BSO specimens were evaluated for occult Fallopian tube carcinoma (FTC), ovarian carcinoma (OVC) and serous tubal intraepithelial carcinoma (STIC) in all patients. P53-signature was available in 58 patients. Clinical data was obtained from patients’ charts. We calculated the association between clinical, pathological and molecular risk factors of PSC after BSO.
Results: Analysis of BSO specimens revealed occult FTC in 1 woman (0.8%), STIC in 2 women (1.7%), and 6/58 women (10.3%) had a positive “p53 signature”. Older age at menopause (p=0.007) and shorter oral contraceptive use (p<0.001) were associated with FTC and STICs. The incidence of PSC after BSO was 1.7% (two patients). Both were BRCA2 mutation carriers and one had a history of STIC. The only risk factor identified for PSC after BSO was older age at surgery (63.5 years for patients with PSC vs. 48.6 years for patients without PSC, p<0.001).
Conclusions: The incidence of PSC after BSO in our series is 1.7% and it is associated with an older age at BSO. Earlier menopause and oral contraceptive use seem to be associated with a decrease in the prevalence of occult FTC and STICs.