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

 Sihoon LEE  ;  Soon Won HONG  ;  Sung Jae SHIN  ;  Yoo Mee KIM  ;  Yumie RHEE  ;  Bu Il JEON  ;  Woo Chul MOON  ;  Myung Ryurl OH  ;  Sung-Kil LIM 
 ENDOCRINE JOURNAL, Vol.51(3) : 317-323, 2005 
Journal Title
Issue Date
Adenomatous Polyposis Coli/genetics* ; Adult ; Carcinoma, Papillary/diagnosis ; Carcinoma, Papillary/genetics* ; Carcinoma, Papillary/surgery ; Colonoscopy ; Cytoskeletal Proteins/analysis ; Female ; Gastroscopy ; Genes, APC ; Germ-Line Mutation ; Humans ; Lymph Node Excision ; Pedigree ; Sequence Analysis, DNA ; Thyroid Neoplasms/diagnosis ; Thyroid Neoplasms/genetics* ; Thyroid Neoplasms/surgery ; Thyroidectomy ; Tomography, X-Ray Computed ; Trans-Activators/analysis ; Tumor Suppressor Protein p53/analysis ; Ultrasonography ; beta Catenin
Papillary Thyroid Carcinoma ; Familial Adenomatous Polyposis ; APC gene ; germline mutation ; genetic counseling
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.
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1. College of Medicine (의과대학) > Dept. of Internal Medicine (내과학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Pathology (병리학교실) > 1. Journal Papers
Yonsei Authors
Shin, Sung Jae(신성재)
Lee, Si Hoon(이시훈)
Rhee, Yumie(이유미) ORCID logo https://orcid.org/0000-0003-4227-5638
Lim, Sung Kil(임승길)
Hong, Soon Won(홍순원) ORCID logo https://orcid.org/0000-0002-0324-2414
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