Abstract
We report a case of neurofibromatosis type 1 (NF1) with colonic and small intestinal cancer. The patient was an 80-year-old female with NF1 who presented with the chief complaint of bloody bowel discharge. Abdominal CT revealed wall thickening of the sigmoid colon and small intestine with contrast enhancement, and bleeding from the colon or small intestine was suspected. Colonoscopy revealed a mass lesion and stenosis 25 cm from the anal verge. The following day, emergency surgery was performed to control the bleeding. Intraoperatively, the bladder, ileum, both ovaries, and uterus were adherent, with abscess formation. Also, we found a perforation proximal to the tumor in the sigmoid colon and multiple mass lesions in a 60-cm segment of the small intestine about 200 cm proximal to the Bauhin's valve. Hartmann's operation was performed with resection of the involved segment of the small intestine. Histopathological examination revealed multiple neurofibromata in the jejunum, and an adenocarcinoma with well-differentiated and moderately differentiated components in the sigmoid colon. There have been previous reports of NF1 patients with gastrointestinal carcinoma, and NF1 patients should be examined carefully with special attention paid to the possible presence of tumors in the gastrointestinal tract.
