Do hereditary syndrome-related gynecologic cancers have any specific features?

UNLABELLED

Hereditary syndromes are responsible for 10 % of gynaecologic cancers, among which hereditary breast-ovarian cancer and hereditary non-polyposis colon cancer syndromes, known as HBOC and Lynch syndromes respectively, present the highest relative risk. The latter predisposes to endometrial cancer and both contribute to ovarian cancer. Cowden syndrome-related endometrial cancer and the increased risk of ovarian, uterine and cervical cancers associated with Peutz-Jeghers syndrome, are also demonstrated, while Li-Fraumeni syndrome patients are prone to develop ovarian and endometrial cancers. Despite these syndromes' susceptibility to gynaecologic cancers being consensual, it is still not clear whether these tumours have any epidemiologic, clinical, pathologic or imaging specific features that could allow any of the intervening physicians to raise suspicion of a hereditary syndrome in patients without known genetic risk. Moreover, controversy exists regarding both screening and surveillance schemes. Our literature review provides an updated perspective on the evidence-based specific features of tumours related to each of these syndromes as well as on the most accepted screening and surveillance guidelines. In addition, some illustrative cases are presented.

TEACHING POINTS

• HBOC syndrome is mainly associated with ovarian HGSC, which arises in fallopian fimbriae. • LS-related endometrial tumours show histological diversity and predilection for lower uterine segment. • LS and CS-related ovarian cancers are mostly of non-serous type, usually endometrioid. • Ovarian SCTAT and cervical adenoma malignum are strongly associated with PJS. • Unfortunately, hereditary gynaecologic cancers do not seem to have distinctive imaging features.