A Case of Colonic Adenocarcinoma in a Patient with Wilson's Disease
A 34-year-old male was admitted to our hospital due to abdominal pain and constipation of 1-month duration. Five years previously, the patient was diagnosed with WD. Laboratory examination results at the time of diagnosis of WD revealed the following blood chemistry: white blood cells 3,600/mm3, hemoglobin 14.1 g/dL, platelets 97,000/mm3, aspartate aminotransperas (AST) 37 IU/L, alanine aminotransferse (ALT) 57 IU/L, gamma-glutamyl transpeptidase 100 IU/L, alkaline phosphatase 229 IU/L, total bilirubin 1.83 mg/dL, albumin 4.1 g/dL, serum ceruloplasmin 2.3 mg/dL (normal range, 20 to 40 mg/dL), serum copper 47 µg/dL (normal range, 90 to 130 µg/dL), and 24-hour urinary copper excretion 421 µg (normal range, <40 µg). Other serologic markers were all negative. Slit-lamp examination revealed a band of golden-brownish pigment in the cornea, i.e., a Kayser-Fleischer ring (). Abdominal ultrasonographic findings were compatible with liver cirrhosis. The patient was diagnosed with WD and treated with D-penicillamine (1.5 g/day), adjusted according to the amount of 24-hour urinary copper excretion.\nAt admission, vital signs were blood pressure 110/70 mmHg, pulse 100 beats/min, respiration 20/min, body temperature 36℃, and body mass index was 23.5 kg/m2. He was a nonsmoker and had no prior or family history of colon cancer. Laboratory examination results showed hemoglobin 11.9 g/dL, serum albumin 3.8 mg/dL, total bilirubin 1.1 mg/dL, AST 24 IU/L, ALT 18 IU/L, prothrombin time (INR) 1.1, serum ceruloplasmin 3.5 mg/dL, 24-hour urinary copper excretion 752 µg, serum carcinoembryonic antigen 13.3 ng/mL. Abdominal computer tomography scan showed localized thickening of the wall of hepatic flexure with an irregular mass-like lesion protruding into the lumen. Colonoscopic examination revealed ulceroinfiltrating mass at the hepatic flexure leading to luminal stenosis (). Positron emission tomography-computed tomography scan showed increased uptake of 18-fluoro-fludeoxyglucose at the hepatic flexure of the ascending colon () but no lymph node or distant metastatic lesion. The patient underwent exploratory laparotomy with right hemicolectomy. The gross appearance of the resected specimen showed a 6.0×5.0 cm-sized, centrally ulcerative mass, and histologic analysis revealed moderately differentiated adenocarcinoma. Immunohistochemical staining showed intact hMSH2 expression but loss of hMLH1 expression (). The final surgical staging was pT3N0M0. There were no postoperative complications, and the patient has been followed at the outpatient clinic without recurrence for 2 years.