13-1-2021

Gastrointestinal polyposis syndromes

Several clinically characterised hereditary tumour predisposition syndromes with predominant manifestation in the gastrointestinal tract have been delineated within the last decades and explained by germline mutations in specific tumor suppressor or DNA repair genes. While some syndromes are restricted to gastrointestinal neoplasms, others show a variety of extraintestinal lesions. A clinical diagnosis might be challenging in the absence of a distinct family history and in case of a mono-symptomatic course. However, multigene panel testing can uncover those cases. For most of the polyposis syndromes, well established and efficient surveillance programs are available while in others, consensus recommendations are still lacking. This review will address state-of-the-art diagnostic algorithms and discuss present surveillance and management strategies.