Evaluation of Classic, Attenuated, and Oligopolyposis of the Colon

Abstract

The goal of this review is to provide an overview of evaluating patients with adenomatous polyposis of the colon, including elements such as generating a differential diagnosis, referral considerations for genetic testing, genetic testing options, and expected outcomes from genetic testing in these individuals. In more recent years, adenomatous colonic polyposis has evolved beyond the more robustly characterized familial adenomatous polyposis (FAP) and MUTYH-associated polyposis (MAP) now encompassing more newly described genes and associated syndromes. Technological innovation, from whole-exome sequencing to multigene panel testing, has dramatically increased the amount of genotypic and phenotypic data amassed in adenomatous polyposis cohorts, which has contributed greatly to informing diagnosis and clinical management of affected individuals and their families.

Keywords: Adenomatous polyposis; Colon polyps; Genetic testing; Hereditary colorectal cancer syndrome.

Figure 1:

Overview of polyposis syndromes. AD: Autosomal dominant; AFAP: Attenuated familial adenomatous polyposis; AR: Autosomal recessive; CMMRD: Constitutional mismatch repair-deficiency; FAP: Familial adenomatous polyposis; HMPS: Hereditary mixed polyposis syndrome; JPS: Juvenile polyposis syndrome; MAP: MUTYH-associated polyposis; PHTS: PTEN hamartoma tumor syndrome; PJS: Peutz-Jeghers syndrome; PPAP: Polymerase proofreading-associated polyposis; SPS: Serrated polyposis syndrome.