Original articlePrevalence of Thyroid Cancer in Familial Adenomatous Polyposis Syndrome and the Role of Screening Ultrasound Examinations
Section snippets
Patients and Methods
We performed a retrospective chart review of patients referred to the High-Risk Gastrointestinal Cancer Clinic at Massachusetts General Hospital since 1994 and identified all patients with a proven diagnosis of FAP. In most cases, the diagnosis of FAP was confirmed with germline APC gene testing. In those patients who did not undergo genetic testing or who had an inconclusive genetic test result, the diagnosis was established by clinical criteria including: diffuse colonic adenomatous
Patient Characteristics
Fifty-one patients fulfilled clinical and/or genetic criteria for FAP. In 40 patients, the diagnosis was confirmed by the presence of a deleterious germline mutation in the APC gene. In the remaining 11 patients who did not have genetic testing or did not have an identifiable APC mutation, the diagnosis was based on clinical criteria. Eight patients had a personal history of diffuse colonic polyposis, 1 or more extracolonic manifestations related to FAP, and a positive family history of FAP. In
Discussion
It has been estimated that the lifetime risk of papillary TC is 2% in patients with FAP,6 and the prevalence of TC in different FAP registries has been reported to be 1%–2%.10, 23 However, the 12% overall prevalence of TC in our cohort of 51 FAP patients was significantly higher. Although the numbers are small, the risk in women appears to be greater than in men. It should be noted that not all of our patients underwent screening ultrasound, possibly placing the risk even higher. Overall, our
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2020, The Lancet Diabetes and EndocrinologyCitation Excerpt :Phenotypic subtypes of familial adenomatous polyposis, called Gardner's syndrome and Turcot's syndrome, include extracolonic manifestations: supernumerary teeth, fibrous dysplasia of the skull, osteomas of the mandible, fibromas, desmoid tumours, epithelial cysts, hypertrophic retinal pigment epithelium, upper gastrointestinal tract hamartomas, hepatoblastomas in Gardner's syndrome, and medulloblastomas in Turcot's syndrome. Thyroid cancer has been reported in approximately 1–2% of patients with familial adenomatous polyposis, with high rates of cribriform-morular variant papillary thyroid cancer (CMV-PTC).71 Two recent meta-analyses placed the prevalence of thyroid cancer in patients with familial adenomatous polyposis at 1·6%70 and 2·6%69, with female-to-male ratios of 6.9:170 and 19:1, respectively.69
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2019, American Journal of Ophthalmology Case ReportsCitation Excerpt :Other screening recommendations for classic FAP include EGD for gastric polyps and duodenal adenomas starting at age 20–30 every 6 months-4 years depending on burden of findings and referenced guidelines.5,8,19,23 Annual physical exam should be performed on all patients with either classic or attenuated FAP and include neurological testing to screen for CNS neoplasms and thyroid palpation to screen for nodules, with possible addition of thyroid ultrasound regardless of physical exam findings.19–21 Screening for desmoid tumors and hepatoblastoma should also be considered in those with classic FAP.18
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Supported by a postdoctoral fellowship from the Fundacion Ramon Areces (Spain) (M.H.).