| Theme | Gastrointestinal polyposis -- progress in the diagnosis and treatment | |
|---|---|---|
| Title | Classification and characteristics of digestive tract polyposis | |
| Publish Date | 2016/05 | |
| Author | Kazuo Tamura | Department of Life Science, Faculty of Science and Engineering, Kinki University / Division of Lower Gastrointestinal Surgery, Department of Surgery, Hyogo college of Medicine |
| Author | Naohiro Tomita | Division of Lower Gastrointestinal Surgery, Department of Surgery, Hyogo college of Medicine |
| [ Summary ] | Hereditary gastrointestinal polyposis is an entity in which a large number of polyps develop in the alimentary tract due to germline mutations of the responsible genes. Although the clinical features are similar, there may be genetic heterogeneity. Therefore, molecular classification is important when considering management. Familial/hereditary gastrointestinal polyposis syndromes include adenomatous polyposis, Peutz-Jeghers syndrome, juvenile polyposis, and Cowden disease. The genes responsible for adenomatous polyposis/multiple adenoma syndrome are APC, MUTYH, POLE, or POLD1. The genes responsible for Peutz-Jeghers syndrome, juvenile polyposis, Cowden syndrome, and hamartoma polyposis are STK11, SMAD4, BMPR1A, and PTEN, respectively. The abnormalities and carcinogenesis associated with these genes have been elucidated. This paper discusses six types of gastrointestinal polyposis and the responsible genes. |
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