Papillary thyroid carcinoma associated with familial adenomatous polyposis: Molecular analysis of pathogenesis in a family and 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 Kim

Research output: Contribution to journalReview article

34 Citations (Scopus)


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.

Original languageEnglish
Pages (from-to)317-323
Number of pages7
JournalEndocrine Journal
Issue number3
Publication statusPublished - 2004 Jun 1


All Science Journal Classification (ASJC) codes

  • Endocrinology, Diabetes and Metabolism
  • Endocrinology

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