A case of adenocarcinoma, signet ring cell type, in 2nd portion of duodenum associated with neurofibromatosis type I / 대한내과학회지

ABSTRACT

The neurofibromatoses are a rare group of hereditary diseases of autosomal dominant fashion with the overall incidence of one in 3,000~4,000 and with two distinct forms, type I (Von Recklinghausen's neurofibromatosis) characterized by skin lesions including multiple cutaneous neurofibromas, axillary and groin freckling, and cafe-au-lait spots and type II by the presence of bilateral vestibular schwannomas. The neurofibromatosis type I is associated with the mutation of NF-I gene on chromosome 17q 11.2, which has a tumor suppressive role and with resultant development of the wide variety of tumors with the malignant incidence of about 2~16 %. Although the cases of malignant tumors in the neurofibromatosis type I have been reported in various tumors with the neural origin, lymphoma, pheochromocytoma and some cases of gastrointestinal tumors, the gastrointestinal tumors were found in only hepatobiliary system and large and small bowels and the cases of the malignant tumors of upper GI origin in duodenum and stomach have not been reported yet in Korea. We report a case of a 64-year-old man admitted with epigastric pain and diagnosed to adenocarcinoma, signet ring cell type, in 2nd portion of duodenum associated with neurofibromatosis type I.