Which familial syndromes increase the risk for papillary thyroid carcinoma (PTC)?

Updated: Jun 18, 2020
  • Author: Ponnandai S Somasundar, MD, MPH, FACS; Chief Editor: Neetu Radhakrishnan, MD  more...
  • Print

Unlike medullary thyroid carcinoma, papillary thyroid cancer is not a part of multiple endocrine neoplasia syndromes. However, uncommon familial syndromes such as familial adenomatous polyposis (FAP), Gardner syndrome (Gardner's syndrome), and Cowden disease (Cowden's disease) may be associated with thyroid papillary tumors in about 5% of cases. [24]

In particular, FAP is associated with elevated risk of the rare cribriform-morula variant of papillary thyroid carcinoma (CMV-PTC). A study of 129 Japanese patients with FAP who underwent screening with neck ultrasonography found 11 cases of papillary thyroid cancer, eight of which were CMV-PTC. All the patients with CMV-PTC were women 35 years of age or younger. [25]

Did this answer your question?
Additional feedback? (Optional)
Thank you for your feedback!