juvenile polyps are the most common types of polyps in children but rare in adults. inflammatory bowel disease (IBD) patients had the same spectrum of symptoms as patients with juvenile polyps. Both patients with polyps teenagers and people with active IBD have high fecal calprotectin levels. Four cases of children with ulcerative colitis (UC) with solitary juvenile polyps and one adult case with UC with juvenile polyposis syndrome have been reported in the diagnosis of UC, while there was no case of adults with UC with solitary juvenile polyps were reported in men literature.

A 37 years with a 12 year history of UC was brought to our clinic because of the increased frequency of bowel movements. UC was diagnosed at the age of 25. As the lesions confined to the rectum, sulfasalazine Mesalazine suppositories or suppositories are used. Patients were followed at an outpatient clinic, and a colonoscopy done every one or two years. The latest inspection conducted three years before in the presence of proctitis.

More recently, the patient complained of three to five bowel movements a day. There is mucus in the stool but no blood visible. Colonoscopy revealed a solitary polyp, about 1.5 cm, with a short and wide rods in the transverse colon mucosa surrounded by congestive and edema. The patient had no family history of colorectal polyps or cancer. polyp was successfully removed by endoscopic mucosal resection.

Histopathological examination revealed that the juvenile polyp is a polyp without signs of malignant. Immunohistochemical staining for p53 expression of wild type and p53 excess undetected. Ki-67 labeling index was 3% .This is the first case of adult UC patients with solitary juvenile polyps in the 12-year follow-up. The correlation between juvenile polyps and IBD activity requires further research.

Diagnosis and management of a solitary colorectal juvenile polyp in an adult during follow-up for ulcerative colitis: A case report.
Diagnosis and management of a solitary colorectal juvenile polyp in an adult during follow-up for ulcerative colitis: A case report.

juvenile papillomatosis of breast (Swiss cheese disease) have frequent association with PIK3CA and / or mutation of AKT1.

Juvenile papillomatosis (JP), the so-called Swiss cheese disease is a rare benign breast disease of young adults. Associations (up 28%) with breast cancer in the family affected patients have been reported. A cystic mass breast lesions and calcifications multinodular JP characterize the imaging study.

Breast cancer develops only at very low part of the patient. JP molecular background has not been studied until now. In this study, we discuss the case of JP mutation analysis and correlate these results with follow-up and family-history in the context of the comprehensive review of the literature JP. We identified 13 cases that meet the criteria of JP. All patients were women with an average age of 38 years (26 to 50 years). follow-up information is available in 11 of 13 patients. Quite paraffin embedded tissue and DNA quality was good for the next generation sequencing (NGS) is available in 10 patients.

In 5 of the 10 patients, we found PIK3CA mutations in 2 of 10 patients in the AKT1 mutation hotspot known. further mutation in the MET gene, FGFR3, PTEN, ATM, NF1 and gnas detected in individual patients. Some of these mutations are present at high allele frequencies showed mutations in the germ line. 2 of 3 patients with a positive family history had PIK3CA mutations; one patient with a positive family history had a mutation in AKT1.

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One patient who later developed invasive ductal carcinoma in the contralateral breast ATM may have a germ line mutation. Our results confirm the hotspot mutations in PIK3CA and AKT1 gene in JP associated with a positive family history of breast cancer, although the mutation is not specific to JP.