Abstract
BackgroundWomen that carry germ-line mutations for BRCA1 or BRCA2 genes are at an increased risk of developing breast, ovarian and peritoneal cancer. Primary peritoneal carcinoma is a rare tumour histologically identical to papillary serous ovarian carcinoma. Risk-reducing surgery in the form of mastectomy and oophorectomy in premenopausal women has been recommended to prevent breast and ovarian cancer occurrence and decrease the risk of developing primary peritoneal cancer.Case presentationWe present a case report of a woman with a strong family history of breast cancer who underwent risk-reducing surgery in the form of bilateral salpingo-oophorectomy following a mastectomy for a right-sided breast tumour. Following the finding of a BRCA1 mutation, a prophylactic left-sided mastectomy was performed. After remaining well for twenty-seven years, she presented with rectal bleeding and altered bowel habit, and was found to have a secondary cancer of the sigmoid colon. She was finally diagnosed with primary papillary serous carcinoma of the peritoneum (PSCP).ConclusionPSCP can present many years after risk-reducing surgery and be difficult to detect. Surveillance remains the best course of management for patients with known BRCA mutations.
Highlights
Women that carry germ-line mutations for BRCA1 or BRCA2 genes are at an increased risk of developing breast, ovarian and peritoneal cancer
The cumulative lifetime risk of invasive breast cancer for women with either mutation is between 60–85% whereas this is between 15–65% for epithelial ovarian cancer [1,2,3]
The risk of primary peritoneal carcinoma is increased in patients carrying BRCA1 mutations with a cumulative lifetime risk of between 1.3–20% [6,9,10]
Summary
Women with BRCA1 or BRCA2 germ-line mutations are at an increased risk of developing tumours of the breast, ovary and peritoneum. Primary papillary serous carcinoma of the peritoneum (PSCP) is a rare tumour found predominantly in elderly and post-menopausal women [4]. The authors present an interesting case of primary peritoneal cancer This was diagnosed twenty-seven years after risk-reducing surgery (ovarian ablation and mastectomy) for a BRCA1 mutation in the context of breast disease management. A 33-year old Caucasian woman was diagnosed with adenocarcinoma of the right breast in 1976 following the discovery of a breast lump She underwent a right-sided mastectomy without adjuvant therapy. Two years later at age 35, back pain prompted a bone scan which revealed a 'hot spot' in the region of the lumbar spine This was thought to represent spinal metastases and the patient received local radiotherapy. A staging CT scan excluded macroscopic metastases and reported a large bowel-related mass measuring 68 mm by 67 mm, contiguous with the
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