Generalized juvenile polyposis with mixed pattern and gastric cancer

Juvenile Polyposis: Case Report and Assessment of the Neoplastic Risk in 271 Patients Reported in the Literature

“…We cannot subdivide the cancers according to the site of origin (right colon, left colon or rectum) because these data were not always reported. In addition, Leggett et al [27]reported 2 patients with carcinoma of the small intestine, associated with colonic cancer, Sassatelli et al [30]and Hofting et al [31]reported 1 patient each with juvenile polyposis and adenocarcinomas of the stomach, and Stemper et al [6]reported 2 patients with juvenile polyposis and perivaterian carcinomas. Adding these 47 patients with cancer to 50 patients with adenoma we find that 97 of 271 patients (35.79%) had degenerative changes of their disease.…”

“…Several authors [27, 30]agree that juvenile polyposis is inherited as an autosomal dominant trait. However, no chromosomal anomalies have been found to be responsible for the development of juvenile polyposis.…”

“…The risk of malignant degneration for juvenile polyposis was first recognized in the 1970s and, at present, all the authors agree that juvenile polyposis is a precancerous condition. Colorectal cancer has been reported in patients with both colorectal [1, 2, 3, 4, 18, 19, 20, 21, 22, 23, 24, 25, 26]and generalized juvenile polyposis [3, 6, 27, 28, 29, 30, 31]. Malignancy can occur in the sporadic form [4, 19, 20, 21, 22, 24, 25, 28, 29, 30, 32]as well as in the familial one [1, 2, 3, 4, 6, 18, 19, 23, 26, 27, 31].…”

Juvenile Polyposis Syndrome

“…Another study reported small bowel polyps in 8 of 56 JPS patients (14%) [12] . Moreover, a number of case reports of duodenal, jejunal, and ileal polyps in JPS patients exist [13,[15][16][17]34] , In addition, juvenile polyps are frequently found in the ileal pouch of juvenile polyposis patients who have undergone proctocolectomy [35,36] .…”

“…In addition, absence of the SMAD4 protein on immunohistochemistry of a juvenile polyp indicates that the patient carries a germline SMAD4 mutation ( Figure 2C) [11] . Small intestinal polyps in JPS have been classified as juvenile [12,13] , hyperplastic and/or inflammatory polyps [14][15][16] , and as lymphoid hyperplasia [15,17] . The larger small intestinal polyps resemble juvenile polyps in the colon [17] .…”