2023 Volume 56 Issue 1 Pages 27-33
A 37-year-old man visited another hospital with complaints of abdominal distention, anorexia, and weight loss. He was referred to our hospital. CT showed massive ascites, a descending colon tumor, and peritoneal dissemination. A colonoscopy revealed a fully circumferential irregular type 1 tumor in the descending colon. FDG-PET showed FDG accumulation in the descending colon tumor, supraclavicular fossa, mediastinum, paratrachea, peritoneum, and omentum. Biopsy of the descending colon tumor failed to provide a definite diagnosis. Therefore, staging laparoscopy was performed. Immunohistochemical staining was positive for nuclear protein of the testis (NUT) and fluorescence in situ hybridization (FISH) showed rearrangement of the NUT gene. Therefore, the patient was diagnosed with NUT midline carcinoma and treated with multiagent chemotherapy. However, due to rapid progression of the disease, he passed away about six months after the initial diagnosis. NUT midline carcinoma is a very rare disease with a genetic abnormality, and is often detected at an advanced stage without any disease-specific histology. Effective treatment for NUT midline carcinoma has not been established, and further studies and accumulation of cases are needed.
