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Papillary Thyroid Carcinoma Associated with Familial Adenomatous Polyposis: Molecular Analysis of Pathogenesis in a Family and Review of the Literature

Authors
 Woo Chul MOON  ;  Myung Ryurl OH  ;  Yumie RHEE  ;  Yoo Mee KIM  ;  Sung Jae SHIN  ;  Soon Won HONG  ;  Sihoon LEE  ;  Bu Il JEON  ;  Sung-Kil LIM 
Citation
 Endocrine Journal, Vol.51(3) : 317-323, 2004 
Journal Title
 Endocrine Journal 
ISSN
 0918-8959 
Issue Date
2004
Abstract
We found a case of a papillary thyroid carcinoma that was accompanied by a familial adenomatous polyposis (FAP) in a 29-year-old female. She had hundreds of adenomas inside the entire colon and a congenital hypertrophy of the retinal pigmented epithelium (CHRPE). The patient underwent a total thyroidectomy and a central compartment neck node dissection. Gross examination of the thyroid identified two solid and cystic lesions. The pathological finding of thyroid cancer revealed a mixture of a peculiar nuclear clearing, cribriform, morula formation, trabecular and papillary pattern. The patient's brother had undergone a total colectomy due to FAP at the age of 25. Genetic analyses of the patient's family members revealed that she and her brother had the same germline mutation, in which five nucleotides (AAAGA) were deleted from codon 1309 of the adenomatous polyposis coli (APC) gene exon 15. Strong and frequent immunoreactivities of β-catenin and p53 were evident in the tumor tissue. At the time of writing, a preventive colectomy was still under consideration for the patient. Genetic counseling was given to the other family members, who were not attacked by this disease, in order to allay their fears of cancer.
Files in This Item:
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DOI
10.1507/endocrj.51.317
Appears in Collections:
1. Journal Papers (연구논문) > 1. College of Medicine (의과대학) > Dept. of Internal Medicine (내과학교실)
1. Journal Papers (연구논문) > 1. College of Medicine (의과대학) > Dept. of Pathology (병리학교실)
Yonsei Authors
김유미(Kim, Yoo Mee)
신성재(Shin, Sung Jae)
이시훈(Lee, Si Hoon)
이유미(Rhee, Yumie) ORCID logo https://orcid.org/0000-0003-4227-5638
임승길(Lim, Sung Kil)
홍순원(Hong, Soon Won) ORCID logo https://orcid.org/0000-0002-0324-2414
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URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/112987
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