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Publication
Do hereditary syndrome-related gynecologic cancers have any specific features?
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Authors
Advisor(s)
Abstract(s)
Hereditary syndromes are responsible for 10 % of
gynaecologic cancers, among which hereditary breastovarian
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.
Description
Keywords
Gynaecologic neoplasms Hereditary cancer syndromes Neoplasms by histological type Diagnostic imaging Practice guideline
Citation
Neto, Nelson; Cunha, Teresa Margarida. Do hereditary syndrome-related gynecologic cancers have any specific features?, Insights into Imaging, 6, 5, 545-552, 2015.