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가족성 대장 용종증에 동반된 갑상선 유두암 1예

Other Titles
 A Case of Thyroid Papillary Cancer Associated with Familial Adenomatous Polyposis 
 신성재  ;  이현주  ;  김소헌  ;  심완섭  ;  이시훈  ;  김유미  ;  이유미  ;  김태일  ;  차봉수  ;  이현철  ;  임승길 
 Journal of Korea Society of Endocrinology (대한내분비학회지), Vol.19(2) : 209-216, 2004 
Journal Title
 Journal of Korea Society of Endocrinology  (대한내분비학회지) 
Issue Date
Familial adenomatous polyposis (FAP) is an autosomal dominant syndrome, typically characterized by multiple colorectal adenomas and increased incidence of colorectal carcinomas if left untreated. It is caused by germline mutations of the adenomatous polyposis coli (APC) gene, which has been mapped on chromosome 5q21, and is accompanied by various benign and malignant extracolonic manifestations. The prevalence of thyroid tumors developing in patients with FAP is about 1~2%, are associated with FAP and have certain characteristics; mean age of tumor diagnosis at less than 30 years of age, the pathology is the papillary histiotype in more than 90% of cases, including a so-called cribriform- morular pattern, and multifocality is a frequent feature. In a genetic analysis, thyroid cancer in FAP usually has a mutation in the 5-portion of exon 15 between 778 and 1309, on chromosome 5q21. Also, the ret/PTC (especially ret/PTC1 and ret/PTC3) and p53 genes are thought probably to be associated with thyroid cancer in FAP patients. A case of familial adenomatous polyposis, accompanied by thyroid papillary cancer, was experienced in a 29 year-old female. She had hundreds of adenomas throughout the entire colon and congenital hypertrophy of the retinal pigment epithelium (CHRPE). The pathological finding of thyroid cancer was revealed as a mixture of cribriform, trabecular and papillary patterns. In a genetic analysis, she and her brother had a germline mutation of the APC gene at codon 1309. In Korea, there has been no previous case of cribriform-morular pattern and familial genetic analysis in FAP associated with thyroid cancer. Therefore, this case is reported, with a review of the literature
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1. Journal Papers (연구논문) > 1. College of Medicine (의과대학) > Dept. of Internal Medicine (내과학교실)
Yonsei Authors
김소헌(Kim, So Hun)
김유미(Kim, Yoo Mee)
김태일(Kim, Tae Il) ORCID logo https://orcid.org/0000-0003-4807-890X
신성재(Shin, Sung Jae)
심완섭(Shim, Wan Sub)
이시훈(Lee, Si Hoon)
이유미(Rhee, Yumie) ORCID logo https://orcid.org/0000-0003-4227-5638
이현주(Lee, Hyun Joo)
이현철(Lee, Hyun Chul)
임승길(Lim, Sung Kil)
차봉수(Cha, Bong Soo) ORCID logo https://orcid.org/0000-0003-0542-2854
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