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Management of Hamartomatous Polyps

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Management of Hereditary Colorectal Cancer

Abstract

Hamartomatous polyps may arise as solitary lesions, usually in childhood or early adolescence and, are denoted histologically by an overgrowth of mesenchymal or ectodermal cell native to the area of origin. These polyps may occur “sporadically” or in the context of inherited syndromes. Since proper characterization is relevant for patient management, nowadays appropriate genetic testing should always be taken into account and the results should direct clinical practice. Identifying a hereditary hamartomatous syndrome (HPS) at an early age in families not known to harbor the mutation enables tremendous preventative potential and should drive cancer preventative strategies, extended to at-risk relatives. Hamartomatous syndromes are overall rare, exhibit an autosomal dominant mode of inheritance, and are associated with specific gene alterations and an increased lifetime risk of malignancy. Both intestinal and extraintestinal malignancies have been described in specific hamartomatous polyposis syndromes. Peutz-Jeghers syndrome (PJS) and juvenile polyposis syndrome (JPS) represent the most common hamartomatous polyposis syndromes. The PTEN hamartoma tumor syndrome including Cowden syndrome (CD), Bannayan-Riley-Ruvalcaba syndrome (BRRS), and the Proteus syndrome represent less common HPS. Other syndromes with hamartomatous gastrointestinal polyposis include multiple endocrine neoplasia syndrome 2B (MEN 2B), hereditary mixed polyposis syndrome Cronkhite–Canada syndrome, and basal cell nevus syndrome.

The diagnosis of HPS is based on clinical criteria and genetic testing. Management should be individualized and guided by syndrome-specific features including both intestinal and extraintestinal aspects. Clinical awareness and early diagnosis is warranted to enable optimal surveillance of patients and affected family members because of the associated risk of malignancy as well as serious morbidity and even mortality secondary to both malignant and benign intestinal and extraintestinal manifestations.

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  1. Department of Visceral, Minimally Invasive and Oncologic Surgery, Marien Hospital Düsseldorf, Düsseldorf, Germany

    Peter C. Ambe

  2. University Witten/Herdecke, Witten, Germany

    Peter C. Ambe & Gabriela Möslein

  3. Center for Hereditary Gastrointestinal Tumors, Helios University Hospital Wuppertal, Wuppertal, Germany

    Gabriela Möslein

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  1. Gastrointestinal Surgery, University of North Carolina, Chapel Hill, NC, USA

    Jose G. Guillem

  2. Department of Surgery, Mike O’Callaghan Federal Medical Center, Las Vegas, NV, USA

    Garrett Friedman

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Ambe, P.C., Möslein, G. (2020). Management of Hamartomatous Polyps. In: Guillem, J., Friedman, G. (eds) Management of Hereditary Colorectal Cancer. Springer, Cham. https://doi.org/10.1007/978-3-030-26234-1_2

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