Intussusception reveals MUTYH-associated polyposis syndrome and colorectal cancer: a case report

Abstract

Background We are reporting a rare case of MUTYH-associated polyposis, a colorectal cancer hereditary syndrome, diagnosticated after an intussusception. Colorectal cancer is an important cause of cancer related mortality that can be manifested by an intussusception, a rare occurrence in adults and almost always related to tumors. Approximately 5% of colorectal cancers can be attributed to syndromes known to cause hereditary colorectal cancer, such as MUTYH-associated polyposis, autosomal genetic syndrome associated with this disease. Case presentation We present the case of a 44 years old male, that sought medical consultation with a complaint of abdominal discomfort, that after five days changed its characteristics. The patient was sent to the emergency department were a CT-scan revealed intestinal sub-occlusion by ileocolic invagination. Right colectomy was carried out. The anatomic-pathological examination revealed a moderately differentiated mucinous adenocarcinoma and multiples sessile polyps, which led to the suspicion of a genetic syndrome. In the genetics analysis two mutations were observed in the MUTYH gene, and MUTYH-associated polyposis was diagnosticated. Conclusion This case demonstrates the importance of meticulous analysis of the patient examinations results to identify possible discrete alterations that can lead to improved understanding of disease.

Monoallelic deleterious MUTYH mutations generate colorectal cancer: A case report

“…Malignant tumors accounted for up to 90% of adult intussusception, so if adult intussusception is present, the possibility of tumorigenesis cannot be overlooked, and endoscopy should be considered for surveillance screening and regular follow‐up. 18 …”

“…Malignant tumors accounted for up to 90% of adult intussusception, so if adult intussusception is present, the possibility of tumorigenesis cannot be overlooked, and endoscopy should be considered for surveillance screening and regular follow-up. 18 In our case report, patients should appropriately lengthen and shorten the endoscopic follow-up time according to the bowel preparation and whether the pathology is prone to cancer, and individualize the endoscopic polypectomy plan so that the patient's lesions do not develop as much as possible.…”

A rare sporadic pancreatic desmoid fibromatosis with splenic vein invasion diagnosed by CT scan-guided core needle biopsy: a case report with possible differential diagnosis from metastatic colorectal or renal cancer

“…In addition, colorectal cancer (CRC) is a leading cause of cancer-related deaths worldwide, and its incidence has been increasing [ 11 ]. Peritoneal dissemination is present in 4–10% of all CRCs, most of which are T3 or T4 CRCs [ 12 ].…”

Adult Intussusception Secondary to Colorectal Cancer in a Young Woman: A Case Report

“…AI is rare, it contributes to less than 5% of all cases of bowel obstructions [2,3]. Adult intussusception less commonly occurs in the colon than in the small bowel and accounts for only 20 to 25% of all intussusceptions in several reported case series or case report [1,4,5,[7][8][9][10][11][12][13].…”