Pathologic findings in prophylactic oophorectomy specimens in high-risk women

To ascertain the frequency of significant pathologic alterations in prophylactic oophorectomy specimens in high-risk women referred to a tertiary care center.

Surgical cases for prophylactic oophorectomy referred to a gynecologic oncology clinic from November 1996 to January 2001 were reviewed. Serial sections of entirely submitted tubes and ovaries were procured and reviewed by a pathologist with expertise in gynecologic malignancies. All patients had undergone genetic counseling and either underwent mutational analysis of BRCA1 and BRCA2 genes or had family history suggestive for ovarian and breast cancer susceptibility.

Thirty women with either a documented deleterious BRCA1 or BRCA2 mutation or a suggestive family history underwent prophylactic oophorectomy during the study period. Seventy-three percent of women had undergone genetic testing. Of those, 63.5% harbored a BRCA1 mutation, 13.5% were BRCA2 carriers, and the remaining 23% tested negative. Five of the 30 women (17%) were found to have clinically occult malignancy. Four of the five were diagnosed only on histologic review. A single patient had grossly apparent primary peritoneal carcinoma at the time of laparoscopy. Three patients were found to have primary fallopian tube malignancy, two with in situ papillary serous carcinoma, and one with early invasive disease. Each of the fallopian tube neoplasms measured less than 1 cm. The final patient was diagnosed with an ovarian adenofibroma with a focus of low malignant potential neoplasm and clear cell features. Three of the five were known BRCA1 mutation carriers, one had a documented BRCA2 mutation, and one has not yet been tested.

The high rate of occult malignancy detected in this series suggests that this finding in women at heightened risk for ovarian cancer is relatively common. Further, clinically occult tumors were not limited to ovarian origin, and the majority of cases harbored malignant foci less than 1 cm in greatest dimension that were not recognized at the time of surgery. These findings support the recommendations that in this high-risk population (1) the fallopian tubes and ovaries should be submitted entirely and be evaluated by a pathologist with expertise in gynecologic malignancies in serial sections; (2) laparoscopy and laparotomy are the surgical modalities of choice to allow inspection of the peritoneal surfaces at time of prophylactic oophorectomy and collect fluid for cytologic evaluation; (3) despite the rarity of fallopian tube carcinoma in the general population, BRCA1 and BRCA2 mutation carriers may be at increased risk for tubal cancers.