Results of a prospective thyroid ultrasound screening program in adenomatous polyposis patients.

BACKGROUND: Patients with adenomatous polyposis may be at increased risk for developing thyroid cancer (TC). However, screening guidelines for TC in these patients are not well established. METHODS: Patients with a diagnosis of familial adenomatous polyposis, attenuated familial adenomatous polyposis, and gene mutation-negative adenomatous polyposis enrolled in our Hereditary Colorectal Cancer Family Registry were eligible for a screening thyroid ultrasound (US). Findings were reviewed by the study endocrinologist and intervention and/or follow-up determined. RESULTS: Fifty patients underwent screening thyroid US. Thirty-four (68%) patients had abnormal findings on US, including 27 (79%) with thyroid nodules. In 7 patients, US-detected thyroid nodules met established criteria for fine-needle aspiration. Of the 6 patients who underwent fine-needle aspiration, 2 (4%) were diagnosed with papillary TC. Both of these patients were female. CONCLUSIONS: A large proportion of adenomatous polyposis patients will have abnormal results on thyroid US, including suspicious-appearing thyroid nodules that when biopsied are malignant. Female patients have an apparently greater risk of developing TC. Polyposis patients, especially women, should be offered participation in a thyroid US screening program.

Cribriform-morular variant of papillary thyroid carcinoma: an indication to screen for occult FAP.

Cribriform-morular variant (CMV) is a rare subtype of papillary thyroid carcinoma (PTC) that is associated with familial adenomatous polyposis (FAP). Given the high likelihood for multi-organ malignancies in FAP patients, this study explores the yield of diagnosing occult FAP among CMV-PTC patients. Institutional database was searched in order to identify patients with pathologically-confirmed CMV-PTC from 2000 to 2012. Medical records were reviewed, and clinical and pathological features were analyzed. Eleven cases of CMV were identified from 6,901 patients with PTC, for a prevalence of 0.16 %. All 11 patients were female. The median age at CMV-PTC diagnosis was 36 years (range 18-46). Two patients had pre-existing FAP at the time of PTC diagnosis. The other nine patients were referred for colonoscopy and/or genetic testing. Six patients underwent colonoscopy and one (17 %) was diagnosed with FAP based on polyposis phenotype and genetic testing. The mean age of patients at the time of CMV-PTC diagnosis was younger in the FAP group (23 years, range 18-34) than in the sporadic group (37 years, range 25-46). All three patients with FAP-associated CMV-PTC had multicentric tumors, while all five sporadic patients did not. Our study found that approximately one-sixth of patients with CMV-PTC may have occult FAP. Patients with FAP-associated CMV-PTC appear to be younger and more likely to have multicentric tumors than those with sporadic CMV-PTC. Due to the increased risk of malignancy in patients with FAP, patients with CMV-PTC should be referred for colonoscopy and/or genetic evaluation for FAP.

Utilization of colonoscopy and pathology reports for identifying patients meeting the world health organization criteria for serrated polyposis syndrome.

BACKGROUND: Serrated polyposis syndrome is a rare syndrome associated with an increased risk for colorectal cancer. The World Health Organization criteria were established to standardize the diagnosis and management of patients afflicted with serrated polyposis. Although useful, the criteria may not be ideal for the initial screening of at-risk populations. OBJECTIVE: The aim of this study was to examine the use of a minimal cutoff point of serrated lesions to increase the yield of serrated polyposis cases. DESIGN: This was a retrospective review of colonoscopy and pathology reports to identify patients who met the World Health Organization criteria for serrated polyposis. SETTING: This study was conducted at a tertiary cancer care referral center. PATIENTS: Five hundred patients who had at least 2 pathologically confirmed hyperplastic polyps and/or sessile serrated adenomas/polyps diagnosed between 1999 and 2009 were assessed. MAIN OUTCOME MEASURES: The primary outcome measure was the number of serrated polyposis cases. RESULTS: Forty of the 500 (8%) patients met the World Health Organization criteria for serrated polyposis syndrome. Patients underwent a median of 4 colonoscopies (range, 1-23) before satisfying the criteria, and only 1 (3%) patient met the criteria for diagnosis during the initial colonoscopy. All 16 patients with a history of colorectal cancer were only diagnosed with serrated polyposis either at the time of their cancer diagnosis or during postoperative colonoscopies. Only 5 of the 40 (13%) patients were enrolled in our institutional Hereditary Colorectal Cancer Family Registry before our study for prospective serrated lesion tracking and colorectal cancer screening. LIMITATIONS: This tool requires validation in a prospective setting. CONCLUSIONS: The cutoff point of at least 2 pathologically confirmed serrated lesions can serve as a screening tool for identifying patients meeting the World Health Organization criteria for serrated polyposis syndrome who would otherwise go undetected.