2011 Volume 64 Issue 3 Pages 170-177
A man in his forties was referred to a local clinic due to appetite loss and leg edema, and anemia and hypoproteinemia were found by blood examination. He was referred to our hospital where gastroscopy was performed, and numerous polyps were found in the stomach. By colonoscopy, a type 2 tumor was identified in the cecum and some polyps were found around the tumor and rectum. Histopathological examination of the polyps in the stomach and duodenum and rectum led to a diagnosis of juvenile polyposis. However, the tumor in the cecum was diagnosed as well-differentiated adenocarcinoma and so an operation was performed.
Cases of juvenile polyposis have been reported to be poorly related with malignant tumor since they are classified as hematoma. However, the number of reports of juvenile polyposis accompanied by malignant tumor has been increasing. The SMAD4 germline mutation and BMPR1A germline mutation were reported as genes which are related to juvenile polyposis.
Here, we report a rare case of juvenile polyposis accompanied by colon cancer and recognized SMAD4 germline mutation, and also review the related literature.
