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Gastrointestinal and Pancreatico-Biliary Diseases: Advanced Diagnostic and Therapeutic Endoscopy pp 471–483Cite as

Advanced Techniques in Colonoscopy in Inherited Cancer Conditions

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Abstract

Colorectal cancer (CRC) is the third most incident cancer and is the second most common cause of cancer mortality globally. Although mostly CRCs are sporadic, a familial aggregation is observed in 10–30% of CRCs and, 5–10% are caused by known inherited pathogenic variants. Among these, Lynch Syndrome is the most frequent hereditary condition, caused by germline mutations in one of the DNA mismatch repair genes, namely, MLH1, MSH2, MSH6, and PMS2. Serrated polyposis syndrome has an uncertain inherited transmission but it is considered a major risk factor for CRC. Familial adenomatous polyposis is an autosomal dominant syndrome characterized by a pathogenic variant in APC gene and a 100% of prevalence for CRC. Early detection of both CRCs and precancerous lesions by means of lower GI endoscopy plays a crucial role in hereditary colorectal syndromes, reducing CRC-related incidence and mortality. In this context, a colonoscopy of high quality, based on specific indicators, is the key for a proper endoscopic surveillance. In the last few years, advances in imaging techniques allowed better detection and characterization of colorectal lesions aiding endoscopists in improving the quality of colonoscopy. High-definition endoscopes, dye-based and virtual (NBI, FICE, I-SCAN) chromoendoscopy, autofluorescence imaging, and device-assisted colonoscopy have been increasingly employed in endoscopic clinical practice. This chapter aims to give a technical overview regarding the role of advanced techniques in inherited colorectal syndromes, focusing on Lynch syndrome, Serrated polyposis syndrome, and Familial adenomatous polyposis.

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  1. Gastroenterology and Gastrointestinal Endoscopy Unit, Department of Experimental Oncology, Vita-Salute San Raffaele University, IRCCS Ospedale San Raffaele Scientific Institute, Milan, Italy

    Giulia Martina Cavestro & Giuliano Francesco Bonura

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  1. Giulia Martina Cavestro
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  2. Giuliano Francesco Bonura
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Correspondence to Giulia Martina Cavestro .

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  1. Division of Gastroenterology and Gastrointestinal Endoscopy IRCCS, San Raffaele Scientific Institute, Vita-Salute San Raffaele University, Milan, Italy

    Pier Alberto Testoni

  2. Digestive Diseases Center, Showa University Koto Toyosu Hospital, Tokyo, Japan

    Haruhiro Inoue

  3. Department of Gastroenterology and Hepatology, Mayo Clinic Florida, Jacksonville, FL, USA

    Michael B. Wallace

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  1. Department of Gastroenterology and Hepatology, Mayo Clinic, Jacksonville, Florida, USA

    Michael B. Wallace

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Cavestro, G.M., Bonura, G.F. (2022). Advanced Techniques in Colonoscopy in Inherited Cancer Conditions. In: Testoni, P.A., Inoue, H., Wallace, M.B. (eds) Gastrointestinal and Pancreatico-Biliary Diseases: Advanced Diagnostic and Therapeutic Endoscopy. Springer, Cham. https://doi.org/10.1007/978-3-030-56993-8_28

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