Yonsei Med J 48(6):1039 - 1042, 2007 DOI 10.3349/ymj.2007.48.6.1039 Two Separated Ileal Adenocarcinomas in Neurofibromatosis Type 1 Seal Hwangbo,1 Jiyoun Kim,2 Hyun Kim,3 Jongok Kim,4 Changsuk Kang,5 and Hyekyung Lee6 1Department of Radiology, College of Medicine, Catholic University of Korea, Daejeon St. Mary's Hospital, Deajeon; 2Department of Surgery, College of Medicine, ChungNam National University Hospital, Daejeon; 3Department of Radiology, Halla General Hospital, Jeju; 4Department of Pathology, College of Medicine, Catholic University of Korea, Daejeon St. Mary's Hospital, Daejeon; 5Department of Pathology, College of Medicine, Catholic University of Korea, St. Mary's Hospital, Seoul; 6Department of Pathology, Eulji University Medical Center, Daejeon, Korea. Patients with neurofibromatosis-1 (NF-1) have increased susceptibility to a variety of malignancies. Here, we document a rare case of two separated ileal adenocarcinomas in NF-1. The adenocarcinomas were surrounded by a diffuse tubular adenomatous lesion of the mucosa, and ganglion cells were scattered in the NF background. We found this case mean- ingful for several reasons: two separated adenocarcinomas arising in an unusual ileal segment, the association with pre- cancerous tubular adenoma, and the presence of ganglion cells, which suggests ganglioneuromatosis in NF-1. Key Words: Neurofibromatosis, ileum, adenocarcinoma INTRODUCTION There is an increased risk of malignant tumors in patients with neurofibromatosis 1 (NF-1) as com- pared to the normal population.1-3 Gastrointestinal epithelial tumors are rarely described with NF-1, and there have been no reports of two separated ileal adenocarcinomas until now.4,5 We report a patient with neurofibromatosis whose course was complicated by two separated ileal adenocarcinomas. CASE REPORT A 40-year-old male patient was hospitalized Received April 28, 2006 Accepted August 11, 2006 Reprint address: requests to Dr. Hyekyung Lee, Department of Pathology, Eulji University Medical Center, 1306 Dunsan-dong, Seogu, Daejeon 302-120, Korea. Tel: 82-42-611-3460, Fax: 82-42- 611-3459, E-mail: apw01@hanmail.net for intermittent abdominal pain spanning several months. He was diagnosed with von Recklinghausen's disease (VRN) at age 10, with neurofibromas involving the skin over the abdomen. His aunt had the same multiple, pigmented skin lesions, but without abdominal symptoms (no biopsy available). On physical examination, multiple cafe-au-lait spots, and numerous subcutaneous nodules were visible. Blood pressure was 140/100 mmHg. Laboratory findings were within normal limits. A barium enema showed a long segmental small bowel dilatation and multiple smooth nodular filling defects in the distal ileum (Fig. 1). A computed tomography (CT) of the abdomen revealed a Fig. 1. Barium enema reveals a long segmental small bowel dilatation and multiple smooth nodular filling defects in the distal ileum. Yonsei Med J Vol. 48, No. 6, 2007