A Case of Rectal Cancer With 5q Deletion Syndrome

Abstract

Polyposis syndrome is a risk factor for colon and rectal cancer and should be treated early or followed up strictly. The early diagnosis of colon cancer in children is difficult because children have few symptoms and the prognosis is not very good. A risk factor for pediatric colon cancer is APC-associated polyposis caused by the 5q21-22 mutation. APC-associated polyposis conditions usually include familial adenomatous polyposis (FAP), Gardner syndrome, and Turcot syndrome, but the chromosomal mutation that includes 5q21-22 causes APC-associated polyposis. We present a case of rectal cancer with the 5q deletion syndrome. A 19-year-old male was subjected to chromosomal examination because of less pursuit during a 4-month health checkup, and he was diagnosed as having the 5q deletion syndrome. Colonoscopy (CS) showed polyposis coli in the patient and he was recommended for regular follow-up examinations, during which he did not undergo CS. Later, he complained of bloody stool and underwent CS. Upon CS, a type 2 mass and polyposis coli were observed, and the mass was histopathologically identified as rectal cancer. He underwent laparoscopic proctocelectomy and ileac-pouch anal canal anastomosis. He was followed up regularly. Polyposis syndrome with a risk of cancer should not only be followed up strictly, but also treated early by surgery.