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

摘要: We found a case of papillary thyroid carcinoma that was accompanied by familial adenomatous polyposis (FAP) in 29-year-old female. She had hundreds adenomas inside the entire colon and congenital hypertrophy retinal pigmented epithelium (CHRPE). The patient underwent total thyroidectomy central compartment neck node dissection. Gross examination identified two solid cystic lesions. pathological finding cancer revealed mixture peculiar nuclear clearing, cribriform, morula formation, trabecular pattern. patient's brother undergone colectomy due to FAP at age 25. Genetic analyses family members she her same germline mutation, which five nucleotides (AAAGA) were deleted from codon 1309 coli (APC) gene exon 15. Strong frequent immunoreactivities beta-catenin p53 evident tumor tissue. At time writing, preventive still under consideration for patient. counseling given other members, who not attacked this disease, order allay their fears cancer.