Authors: Monique E. van Leerdam, Victorine H. Roos, Jeanin E. van Hooft, Evelien Dekker, Rodrigo Jover, Michal F. Kaminski, Andrew Latchford, Helmut Neumann, Maria Pellisé, Jean-Christophe Saurin, Pieter J. Tanis, Anja Wagner, Francesc Balaguer, Luigi Ricciardiello
ESGE recommends that individuals with hereditary gastrointestinal polyposis syndromes should be surveilled in dedicated units that provide monitoring of compliance and endoscopic performance measures.
Strong recommendation, moderate quality of evidence, level of agreement 90 %.
ESGE recommends performing esophagogastroduodenoscopy, small-bowel examination, and/or colonoscopy earlier than the planned surveillance procedure if a patient is symptomatic.
Strong recommendation, low quality of evidence, level of agreement 100 %.
Colorectal cancer (CRC) is the fourth most incident cancer and is the second commonest cause of cancer-related death in Europe . While the majority of CRC is sporadic, twin studies have shown that up to 35% of CRC cases have a familial component . Approximately 2%– 5% of CRC cases are genetically determined by mutations in the adenomatous polyposis coli (APC), MUTYH, DNA mismatch repair, or other predisposing genes .
Although hereditary CRC syndromes are rare, it is of great importance that clinicians recognize these syndromes so they can make appropriate management decisions for both the patient and their family members who may also be at risk. Because all patients with polyposis syndrome are at high risk of developing gastrointestinal (GI) malignancies, endoscopic surveillance and interventions are required to prevent the development of cancer or to detect cancer at an early stage. Currently, there is uncertainty about the surveillance intervals and optimal endoscopic management, and guidelines regarding polyposis syndromes are limited. Therefore, the aim of this evidence-based and consensus guideline, commissioned by the European Society of Gastrointestinal Endoscopy (ESGE), is to provide clinicians with a comprehensive overview of the management options regarding endoscopic surveillance and interventions for the most important polyposis syndromes, namely familial adenomatous polyposis (FAP), MUTYH-associated polyposis (MAP), Peutz-Jeghers syndrome (PJS), juvenile polyposis syndrome (JPS), and serrated polyposis syndrome (SPS) (overview shown in ▶Table 1 [4 – 28]).
There are several other polyposis-associated genes, including PTEN, GREM1, POLE/POLD1, and biallelic NTHL1, that will not be discussed in this guideline because of their low prevalence. A second guideline will focus on the endoscopic management of familial and hereditary non-polyposis syndromes.