Synchronous Bilateral Tubal Serous Carcinomas in a Patient With Exon 13 Duplication and Loss of Function of BRCA1
Grzegorz T. Gurdaa b c d e, Kate M. Serdyb c d e, Svetlana A. Yatsenkob c d e, Aleksandar Rajkovicb c d e, Natalie J. Carterb c d e, Rafay Ahmedb c d e, Alexander Babatunde Olawaiyeb c d e, Rohit Bhargavab c d e, Esther Elishaevb c d e f✉
- aDepartments of Pathology, Division of Breast & Gynecologic Pathology (G.T.G., K.M.S., S.A.Y., R.B., E.E.) Obstetrics, Gynecology and Reproductive Sciences (S.A.Y., A.R., A.O.) Radiology (R.A.), University of Pittsburgh School of Medicine Pittsburgh Cytogenetics Laboratory, Center for Medical Genetics and Genomics, Magee-Womens Hospital of UPMC (S.A.Y., A.R.) Magee-Women's Research Institute (MWRI) (A.R., A.O., R.B., E.E.) Department of Human Genetics and Cancer Genetics, University of Pittsburgh (A.R., N.J.C.), Pittsburgh, Pennsylvania
- bDepartment of Human Genetics and Cancer Genetics, University of Pittsburgh (A.R., N.J.C.), Pittsburgh, Pennsylvania
- cDepartments of Pathology, Division of Breast & Gynecologic Pathology (G.T.G., K.M.S., S.A.Y., R.B., E.E.)
- dObstetrics, Gynecology and Reproductive Sciences (S.A.Y., A.R., A.O.)
- ePittsburgh Cytogenetics Laboratory, Center for Medical Genetics and Genomics, Magee-Womens Hospital of UPMC (S.A.Y., A.R.)
- freprint requests to Esther Elishaev, MD, Department of Pathology, Magee-Womens Hospital, Room 4422, 300 Halket Street, Pittsburgh, PA 15213. E-mail: [email protected]
- ✉Corresponding author
Papers open inside SciRah from the original publisher or repository; SciRah never hosts them.
Abstract
We report the first case of distinct, synchronous serous carcinomas of the adnexa arising in a patient with a family history of breast and ovarian cancer and a germline loss of function mutation in BRCA1. Illustrating an exceedingly rare phenomenon of synchronous high-grade carcinomas with distinct histomorphologic, immunohistochemical and cytogenetic features, the case serves as a point of departure for the discussion of phenotypic patterns of carcinomas arising in BRCA1 mutation carriers. We also review patient management, including the importance of risk-reducing salpingo-oophorectomy in women with deleterious BRCA1 mutations, as well as the potential need for an intraoperative pathologic assessment to find occult, high-grade carcinomas in this setting.
TL;DRThe first case of distinct, synchronous serous carcinomas of the adnexa arising in a patient with a family history of breast and ovarian cancer and a germline loss of function mutation in BRCA1 is reported. (Semantic Scholar)