The Prevalence of Thyroid Cancer and Benign Thyroid Disease in Patients With Familial Adenomatous Polyposis May Be Higher Than Previously Recognized

Patients with familial adenomatous polyposis may be at increased risk for thyroid cancer and benign thyroid disease. In our familial adenomatous polyposis registry of 66 patients, 4(6.1%) had thyroid cancer and 6(9.1%) had benign thyroid disease. This values may be higher than previously recognized and requires further investigation to clarify the risk and delineate screening recommendations for these at-risk individuals. Purpose: Patients with familial adenomatous polyposis (FAP) are at increased risk for colorectal cancer and extracolonic neoplasms. The prevalence of thyroid cancer (TO) and benign thyroid disease in this patient population is unclear, and guidelines for screening for TO in these patients are not well established. The purpose of this study was to report the prevalence of TO and benign thyroid disease in patients with FAP. Methods: The prospectively maintained Hereditary Colorectal Cancer Family Registry at Memorial Sloan-Kettering Cancer Center was queried to identify patients with FAP and with TO and/or benign thyroid disease. Results: Sixty-six patients with FAP were identified. There were 30 men and 36 women, with a median age of 38.6 years. Four (6.1%) patients had a history of TO. All were women, with a mean age at TO diagnosis of 36.5 years. Three of the 4 TCs were papillary thyroid cancer. Two patients with TO presented with palpable nodules. An additional 6 (9.1%) patients with FAP had a history of benign thyroid disease, including nodules (3), hypothyroidism (2), cysts (2), goiter (1), and thyroiditis (1). Three of 4 patients with TO and all 6 patients with benign thyroid disease had other extracolonic manifestations associated with FAP. Conclusions: The prevalences of TO (6.1%) and benign thyroid disease (9.1%) are increased in our patients with FAP and are higher than noted in some previous reports. Periodic thyroid ultrasound screening should be considered in patients with FAP to further elucidate the prevalence and for possible early detection of TO and benign thyroid disease in this population.