학술논문
대뇌 핍지교종이 동반된 Turcot 증후군 1예의 유전학적 분석
Genetic Analysis in a Case of Turcot`s Syndrome Associated with Cerebral Oligodendroglioma
Genetic Analysis in a Case of Turcot`s Syndrome Associated with Cerebral Oligodendroglioma
Document Type
Article
Author
김한수 / Han Soo Kim; 박지영 / Ji Young Park; 김효종 / Hyo Jong Kim; 지성길 / Sung Gil Chi; 김윤화 / Yoon Hwa Kim; 이길연 / Kil Yeon Lee; 정용희 / Yong Hee Joung; 한요셉 / Yo Seb Han; 동석호 / Seok Ho Dong; 김병호 / Byung Ho Kim; 장영운 / Young Woon Chang
Source
Intestinal research (Intest Res). Nov 30, 2003 1(2):192
Subject
Language
Korean
English
English
ISSN
1598-9100
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)