| A Case of APC, MMR, MYH negative Turcot's Syndrome |
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Han Soo Kim, Hyo Jong Kim, Sung-Gil Chi, Ki-Duk Nam, Jae-Young Jang, Nam-Hun Kim, Sang-Kil Lee, Kwang-Ro Joo, Seok-Ho Dong, Byung-Ho Kim, Young-Woon Chang, Joung-Il Lee, Rin Chang |
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Department of Internal Medicine, Pathology, Kyung Hee University, College of Medicine, Seoul, Korea
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| APC, MMR, MYH 유전자 음성인 Turcot 증후군 1예 |
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김한수, 김효종, 지성길, 남기덕, 장재영, 김남훈, 이상길, 주광로, 동석호, 김병호, 장영운, 이정일, 장린 |
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경희대학교 의과대학 내과학교실, 병리학교실 |
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| Abstract |
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Turcot's syndrome, clinically characterized by the coincident occurrence of primary tumors of the colon and the central nervous system (CNS) typically a glioblastoma or a medulloblastoma, can genetically be divided into two syndromes: familial adenomatous polyposis (FAP) and hereditary nonpolyposis colon carcinoma (HNPCC). We previously have reported the first case of Turcot's syndrome in Korea associated with cerebral oligodendroglioma. We also have performed genetic analyses of this patient and her family to determine the genetic variants, including mutations in APC gene and mismatch repair gene, in Turcot's syndrome. Recently, germ-line mutation in the base- excision-repair gene MYH was identified to cause a novel autosomal recessive form of FAP. The discovery of MYH polyposis suggests that patients with FAP phenotype, and with a negative APC gene will need genetic testing for MYH mutation. Interestingly, a striking evidence for specific MYH mutations within different ethnic groups has been noted. Therefore, we have analyzed an APC-negative patient with Turcot's syndrome for mutation in MYH gene to assess its possible prevalence and ethnic specificity in Korea. (Intestinal Research 2004;2:113-119) |
| Key Words:
Turcot's syndrome, Colorectal cancer, Oligodendroglioma, Mismatch repair gene, APC gene, MYH gene |
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