A diagnostic dilemma following risk-reducing surgery for BRCA1 mutation - a case report of primary papillary serous carcinoma presenting as sigmoid cancer.
BACKGROUND
Women 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.


METHODS
We 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).


CONCLUSIONS
PSCP 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.
Chand
Manish
M
Poole General Hospital, Longfleet Road, Poole, Dorset, BH152JB, UK. mans001@aol.com
Moore
Patrick J
PJ
Clarke
Andrew D
AD
Nash
Guy F
GF
Hickisk
Tamas
T
D000230:Adenocarcinoma / Q000235:genetics* / Q000556:secondary* / Q000601:surgery; D000328:Adult; D001943:Breast Neoplasms / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D003082:Colectomy / Q000379:methods; D018284:Cystadenocarcinoma, Serous / Q000473:pathology* / Q000601:surgery; D003937:Diagnosis, Differential; D005260:Female; D005500:Follow-Up Studies; D019398:Genes, BRCA1; D020022:Genetic Predisposition to Disease; D006801:Humans; D008408:Mastectomy / Q000379:methods; D009154:Mutation; D016609:Neoplasms, Second Primary / Q000473:pathology*; D010051:Ovarian Neoplasms / Q000473:pathology / Q000517:prevention & control / Q000601:surgery; D010052:Ovariectomy; D010534:Peritoneal Neoplasms / Q000473:pathology* / Q000556:secondary / Q000601:surgery; D011322:Primary Prevention / Q000379:methods; D018570:Risk Assessment; D012811:Sigmoid Neoplasms / Q000556:secondary* / Q000601:surgery; D013997:Time Factors; D016896:Treatment Outcome