Revised Danish guidelines for the cancer surveillance of patients with Cowden Syndrome

Maja Patricia Smerdel*, Anne Bine Skytte, Anne Marie Jelsig, Eva Ebbehøj, Kirstine Stochholm

*Kontaktforfatter for dette arbejde

Publikation: Bidrag til tidsskriftReviewForskningpeer review


Introduction: Cowden syndrome is a cancer predisposition syndrome caused by pathogenic variants in PTEN. The affected patients possess an increased risk of breast, thyroid, renal, colorectal, endometrial cancers as well as malignant melanoma. Thus prophylactic surveillance and follow up is crucial for these patients. Methods: A review of the literature including existing guidelines from the years 1996 until 2017 was carried out. In total, 2078 scientific papers were identified through database searches on Cowden syndrome. Among these, 11 manuscripts were included based on scientific relevance and quality. Expert consensus was reached to define management guidelines. Results: The literature revealed a high risk of cancer in specific organs for patients diagnosed with Cowden Syndrome. Alternative management guidelines were proposed and discussed. Conclusions: Here we propose a revised set of management guidelines for patients with Cowden syndrome in Denmark to address the increased risk of various cancer types.

TidsskriftEuropean Journal of Medical Genetics
Udgave nummer5
Antal sider7
StatusUdgivet - maj 2020