Gynaecological cancers in genetically susceptible women: new thoughts on tubal pathology

Women may be genetically susceptible to development of gynecological cancers. Major familial ovarian cancer syndromes include site-specific ovarian cancer, breast/ovarian cancer, and hereditary non-polyposis colon cancer (HNPCC). The former two syndromes are linked to BRCA1 and BRCA2 genes while DNA repair genes such as hMSH2 and hMLH1 are commonly involved in HNPCC. Carriers are also prone to endometrial carcinoma. BRCA mutation related ovarian tumours are more likely to be high grade serous whilst borderline tumours are conspicuously absent. Papillary serous carcinomas of the peritoneum and fallopian tube are also reported. In recent years, serous tubal intraepithelial carcinoma and transitional metaplasia, its mimick, are identified at the fimbria of prophylactic salpingo-oophorectomy specimens. Immunohistochemical studies for p53 and MIB1 may help in the diagnosis. Tubal pathology is also occasionally reported in Peutz-Jeghers syndrome. Such findings emphasize on the importance of careful pathological examination of the fallopian tube in genetically susceptible women.