제1형 신경섬유종증 환자에서 발생한 대장암

Neurofibromatosis type I is an autosomal dominant disorder that occurs once in 3,000 births. It is characterized by neurofibromas and caf?au lait spots of the skin. Neurofibromatosis type I gene is a tumor suppressor gene. Patients with neurofibromatosis type I are at an increased risk of developing neural neoplasms including optic glioma, astrocytoma, acoustic neuroma, neurilemmoma, and meningioma. The patients with neurofibromatosis type I showed high incidence of Wilm`s tumor, rhabdomyosarcoma, leukemia, and pheochromocytoma but rare incidence of colon cancer. We experienced a case of sigmoid colon cancer and multiple adenomatous polyps of the colon in a patient with sporadic neurofibromatosis type I. (Korean J Gastroenterol 2002;40:402-405)