Colorectal polyposes: from phenotype to diagnosis

Abstract

The colorectal polyposes are uncommon and frequently present diagnostic difficulties. Although the final diagnostic arbiter is the demonstration of a germline mutation, this may not always be demonstrable, and some forms of colorectal polyposis have no known genetic basis. Therefore, an accurate description of the phenotype by the pathologist is central to the establishment of a working diagnosis. This can direct the search for the underlying genetic cause (if any) and is also essential for establishing the magnitude of risk of colorectal malignancy for the patient and the patient's relatives. The pathologist may be provided with only a small and selected sample of endoscopically resected polyps or with prodigious numbers of polyps (too many to sample) when receiving a surgical specimen. Each type of polyposis presents its own particular diagnostic problems that may relate to polyp numbers, gross recognition of small or flat polyps, incomplete development of the full phenotype at the stage of investigation, and the histological classification of unusual or mixed polyps. The aim of this review is to highlight the principles and pitfalls in achieving a comprehensive description of the various types of colorectal polyposis, including classical FAP, attenuated FAP, MUTYH- (formerly MYH-) associated polyposis (MAP), other presentations of multiple adenomas, Peutz-Jeghers syndrome (P-JS), juvenile polyposis syndrome (JPS), Cowden syndrome (CS), hereditary mixed polyposis syndrome (HMPS), and hyperplastic polyposis syndrome (HPS).