Clinical and Pathological Characteristics of Incidental Diagnostic Early Occult Malignancy After Risk-Reducing Salpingo-Oophorectomy in BRCA Mutation Carriers

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 CONCLUSIONS

Our study demonstrated an incidence of early occult malignancy of 5.4% among BRCA mutation carriers who underwent RRBSO. This falls within the middle ranges of reported data (1.3%–10.4%). Origin sites for the discovered malignancies were in the ovaries and in the fallopian tubes. These data support the notion that such malignancies may originate from the fallopian tube, although the fallopian tubes are not a unique site of origin. Further study may explain the different origins of carcinogenesis. Continued screening of women at high risk and recommendation of early and meticulous RRBSO are crucial to limit the risk of ovarian and tubal carcinogenesis.

 

Abstract

Objective: Carriers of familial BRCA mutations are at high risk of early development of ovarian tubal or peritoneal cancers. The definite preventative treatment for these cases is early, risk-reducing, bilateral salpingo-oophorectomy (BSO). The aims of the study were to describe the incidence and source of early occult malignancy after risk-reducing salpingo-oophorectomy in carriers of Ashkenazi Jewish BRCA mutations and to characterize the clinical and pathological features of this unique population.

Methods: Data were collected retrospectively regarding women who underwent BSO in our gynecologic oncology unit from January 2002 through July 2012, after a positive test for a BRCA1 or BRCA2 mutation.

Results: The following 92 cases of BRCA mutations were included: 53 BRCA1, 37 BRCA2, and 2 with both mutations. After risk-reducing salpingo-oophorectomy, 5 (5.4%) of the patients were found to have early occult adnexal malignancy upon pathology study. All 5 had the BRCA1 185 del-AG mutation. Three of the 5 malignancies originated from the ovaries and 2 in the fallopian tubes with no involvement of the ovaries.

Conclusions: A 5.4% incidence of early occult malignancy in adnexal pathology of BSO was found in carriers of Ashkenazi Jewish BRCA mutations. Two cases with malignant origins within the fallopian tube, while sparing the ovaries in their entirety, support the fallopian tubes as the originating organ for some ovarian or peritoneal malignancies in BRCA mutation carriers.