Tubacarcinoom na profylactische laparoscopische ovariëctomie bij een patiënte met een BRCA1-genmutatie

A 48-year-old woman with a distended abdomen appeared to have ascites and was admitted to the gynaecological ward. At the age of 31 years she had been diagnosed with breast cancer and had undergone surgical breast conservation of the right breast. There was a history of both ovarian cancer and breast cancer in her family. Genetic evaluation showed that she was carrying a BRCA1 germline mutation. At the age of 42 years she underwent a prophylactic bilateral laparoscopic ovariectomy and 5 years later she underwent a complete mastectomy due to breast carcinoma of the left breast. Two months later she developed ascites, a raised CA125 level and on a CT scan carcinoma of the peritoneum. During the laparotomy a fallopian tube carcinoma was found. After the uterus, fallopian tubes and omentum had been surgically removed, chemotherapy took place. The patient tolerated this well and the CA125 value decreased. Recently, the first molecular evidence was found that linked fallopian tube cancer to germline mutations in BRCA1 patients. Patients harbouring a BRCA germline mutation not only have an increased risk of ovarian carcinoma but also of fallopian tube carcinoma. Therefore, in patients with a BRCA mutation, prophylactic surgery should take the form of an adnexectomy, not an oophorectomy.