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Intestinal Research 2003;1(2):192-196.
Published online November 27, 2003.
Genetic Analysis in a Case of Turcot's Syndrome Associated with Cerebral Oligodendroglioma
Han Soo Kim, Ji Young Park, Hyo Jong Kim, Sung-Gil Chi, Yoon Hwa Kim, Kil Yeon Lee, Yong Hee Joung, Yo Seb Han, Seok Ho Dong, Byung Ho Kim, Young Woon Chang, Joung Il Lee, Rin Chang
Department of Internal Medicine, Pathology, and General Surgery, Kyung Hee University, College of Medicine, Seoul, Korea
대뇌 핍지교종이 동반된 Turcot 증후군 1예의 유전학적 분석
김한수, 박지영, 김효종, 지성길, 김윤화, 이길연, 정용희, 한요셉, 동석호, 김병호, 장영운, 이정일, 장린
경희대학교 의과대학 내과학교실, 병리학교실
Abstract
Turcot's syndrome (TS) is a genetic disease characterized by primary brain tumor, colon cancer and/or multiple colorectal polyps. The mode of genetic transmission of the syndrome still remains unclear because TS is a rare disorder. The majority of central nervous system (CNS) neoplasms associated with TS are glioma, glioblstoma multiformes and medulloblastoma. Other types of CNS tumors related to TS have been noted in a few case reports, and there are only two reports of oligodendroglioma associated with TS. To the authors' knowledge, this is the first case of a patient with TS who had a cerebral oligodendroglioma and a colorectal adenocarcinoma in Korea. Therefore, the authors performed genetic analysis of this patient and her family to determine the genetic variants, including mutations in APC gene and mismatch repair gene, in Turcot's syndrome. (Intestinal Research 2003;2:192-196)
Key Words: Turcot's syndrome, Colorectal cancer, Oligodendroglioma, Mismatch repair gene, APC gene
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