I Spier1,2, R Hüneburg3,4, S Aretz5,3. 1. Institut für Humangenetik, Universitätsklinikum Bonn, Venusberg-Campus 1, 53127, Bonn, Deutschland. isabel.spier@uni-bonn.de. 2. Nationales Zentrum für erbliche Tumorerkrankungen (NZET), Universitätsklinikum Bonn, Bonn, Deutschland. isabel.spier@uni-bonn.de. 3. Nationales Zentrum für erbliche Tumorerkrankungen (NZET), Universitätsklinikum Bonn, Bonn, Deutschland. 4. Medizinische Klinik und Poliklinik I, Universitätsklinikum Bonn, Bonn, Deutschland. 5. Institut für Humangenetik, Universitätsklinikum Bonn, Venusberg-Campus 1, 53127, Bonn, Deutschland.
Abstract
BACKGROUND: Gastrointestinal polyposis syndromes are the second most common cause of hereditary colorectal carcinomas after Lynch syndrome (hereditary non-polyposis colon cancer, HNPCC). The detection of a causal germline mutation in an affected family member serves for differential diagnosis, assessment of the recurrence risk and predictive testing of healthy individuals at risk. OBJECTIVES: The present article aims to provide an overview of the differential diagnosis of different gastrointestinal polyposis syndromes based on the endoscopic findings, polyp histology, extraintestinal phenotype and molecular genetic diagnostics. MATERIALS AND METHODS: The present article is based on a literature search on gastrointestinal polyposis syndromes. RESULTS: In addition to familial adenomatous polyposis (FAP), there are further subtypes of adenomatous polyposis that can often only be distinguished by the detection of a causative germline mutation and are sometimes associated with different extracolonic manifestations. In hamartomatous polyposis syndromes, the clinical overlaps often cause differential diagnostic problems. Serratated polyposis syndrome is possibly the most frequent polyposis syndrome, although its cause is currently largely unexplained. CONCLUSIONS: Early detection and correct classification of polyposis is crucial for adequate prevention and therapy. Access to multidisciplinary expert centres is useful for the care of families.
BACKGROUND: Gastrointestinal polyposis syndromes are the second most common cause of hereditary colorectal carcinomas after Lynch syndrome (hereditary non-polyposis colon cancer, HNPCC). The detection of a causal germline mutation in an affected family member serves for differential diagnosis, assessment of the recurrence risk and predictive testing of healthy individuals at risk. OBJECTIVES: The present article aims to provide an overview of the differential diagnosis of different gastrointestinal polyposis syndromes based on the endoscopic findings, polyp histology, extraintestinal phenotype and molecular genetic diagnostics. MATERIALS AND METHODS: The present article is based on a literature search on gastrointestinal polyposis syndromes. RESULTS: In addition to familial adenomatous polyposis (FAP), there are further subtypes of adenomatous polyposis that can often only be distinguished by the detection of a causative germline mutation and are sometimes associated with different extracolonic manifestations. In hamartomatous polyposis syndromes, the clinical overlaps often cause differential diagnostic problems. Serratated polyposis syndrome is possibly the most frequent polyposis syndrome, although its cause is currently largely unexplained. CONCLUSIONS: Early detection and correct classification of polyposis is crucial for adequate prevention and therapy. Access to multidisciplinary expert centres is useful for the care of families.
Entities:
Keywords:
Adenomatous polyposis coli; Colorectal cancer, hereditary; Early detection of cancer; Hamartomatous polyposis syndromes; Serrated polyposis syndrome
Authors: Jorge López-Vicente; Daniel Rodríguez-Alcalde; Luis Hernández; Fausto Riu Pons; Pablo Vega; Jesus Miguel Herrero Rivas; José Santiago García; Inmaculada Salces Franco; Marco Bustamante Balén; María López-Cerón; María Pellisé Journal: Clin Gastroenterol Hepatol Date: 2018-10-24 Impact factor: 11.382
Authors: Francesc Balaguer; Evelien Dekker; Arne Gc Bleijenberg; Joep Eg IJspeert; Yasmijn J van Herwaarden; Sabela Carballal; María Pellisé; Gerhard Jung; Tanya M Bisseling; Iris D Nagetaal; Monique E van Leerdam; Niels van Lelyveld; Xavier Bessa; Francisco Rodríguez-Moranta; Barbara Bastiaansen; Willemijn de Klaver; Liseth Rivero; Manon Cw Spaander; Jan Jacob Koornstra; Luis Bujanda Journal: Gut Date: 2019-04-13 Impact factor: 23.059