Prevalence of Thyroid Cancer in Familial Adenomatous Polyposis Syndrome and the Role of Screening Ultrasound Examinations

Gastrointestinal Unit, Massachusetts General Hospital, Boston, Massachusetts 02114, USA.
Clinical gastroenterology and hepatology: the official clinical practice journal of the American Gastroenterological Association (Impact Factor: 7.9). 03/2007; 5(3):367-73. DOI: 10.1016/j.cgh.2006.10.019
Source: PubMed


Thyroid carcinoma is an extraintestinal manifestation of familial adenomatous polyposis (FAP) syndrome, but the precise risk is unknown. The optimal approach for thyroid cancer screening has not been established. We sought to define the prevalence of thyroid cancer and the role of screening ultrasound in FAP patients.
We performed a retrospective chart review of 51 patients with a proven diagnosis of FAP at a single tertiary institution. Clinical records, genetic test results, ultrasound examinations, and histopathology were reviewed.
Papillary thyroid cancer was diagnosed in 6 female patients (12%). The mean age of thyroid cancer diagnosis was 33 years, and mean tumor size was 12 mm. However, all patients had additional malignant foci that were small (1-9 mm), and none had suspicious features of malignancy on ultrasound. Of 28 patients who had at least one screening ultrasound, 22 (79%) had thyroid nodules, and 2 (7%) had papillary thyroid carcinoma. Of those with nodules, 68% had multinodular disease. A follow-up ultrasound in 12 patients after a mean of 15 months revealed no changes in either the number or size of nodules.
The 12% prevalence of thyroid cancer in this series of FAP patients is significantly higher than in previous reports. Among patients undergoing screening ultrasound, 7% had thyroid cancer. Nodular thyroid disease is very common in FAP. Because small nodules (<9 mm) might also be malignant, close follow-up with ultrasound and fine-needle aspiration might be warranted.

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    • "Previous authors have recommended surveillance including yearly thyroid exams [14,31] or ultrasound [18,32] for all patients with FAP. As noted by Herraiz et al. [18], palpable thyroid nodules are appreciated in 5% of women and 1% of men in the general population [33,34], while the prevalence of thyroid nodules detected by high-resolution ultrasound is 19-67% in randomly selected individuals [35]. Thus, it appears a portion of nodules will not be appreciated by physical exam only. "
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    ABSTRACT: Lifetime risk of thyroid cancer associated with FAP has been reported as 1-2%. The mean age at diagnosis of thyroid carcinoma in FAP has been reported at 28 years. The aims of this paper are to better understand gene mutations associated with thyroid cancer and refine surveillance recommendations for patients with FAP. We performed a search in Pubmed, Ovid Medline and Embase with the terms ("Thyroid Gland"[Mesh] OR "Thyroid Neoplasms"[Mesh]) AND "Adenomatous Polyposis Coli"[Meshdenomatous Polyposis Coli"[Mesh] to identify subjects with thyroid cancer and FAP. As a reference group for APC mutations in the unselected FAP population, we used the UMD-APC database referenced in the Orphanet portal, which includes APC mutation data on 2040 individuals with FAP. There were 115 reported cases of thyroid cancer in patients with FAP (95 female:11 male) with an average age of 29.2 years. Gene mutation testing results were reported in 48 patients. On comparing the prevalence of APC mutation in the population of FAP patients with thyroid cancer and the prevalence of the same mutation in the reference population an increased odds ratio was evident in individuals harboring an APC mutation at codon 1061 (OR:CI 4.1: 1.7-8.9). Analysis of the prevalence of thyroid cancer in individuals with FAP segregated by the region of the gene affected shows an increased risk of thyroid cancer in individuals harboring mutations proximal to codon 512 (OR 2.6, p 0.0099). There is increased risk for thyroid cancer in individuals with APC mutations at the 5' end (proximal to codon 528) along with the established high risk group harboring mutation at codon 1061. It is suggested that these patients might benefit from directed surveillance by annual ultrasound from age 18 years onwards.
    Hereditary Cancer in Clinical Practice 10/2013; 11(1):13. DOI:10.1186/1897-4287-11-13 · 1.47 Impact Factor
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    • "Young women with FAP are at particular risk of developing thyroid cancer, with risk approximately 160 times higher than that of normal individuals, and PTC occurs with a frequency about 10 times that expected for sporadic PTC (Harach et al., 1994; Cameselle-Teijeiro and Chan, 1999; Soravia et al., 1999). Prevalence ranges from 2 to 12% of patients with FAP (Herraiz et al., 2007). "
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    ABSTRACT: Follicular cell-derived well-differentiated thyroid cancer, papillary (PTC) and follicular thyroid carcinomas comprise 95% of all thyroid malignancies. Familial follicular cell-derived well-differentiated thyroid cancers contribute 5% of cases. Such familial follicular cell-derived carcinomas or non-medullary thyroid carcinomas (NMTC) are divided into two clinical-pathological groups. The syndromic-associated group is composed of predominately non-thyroidal tumors and includes Pendred syndrome, Warner syndrome, Carney complex (CNC) type 1, PTEN-hamartoma tumor syndrome (PHTS; Cowden disease), and familial adenomatous polyposis (FAP)/Gardner syndrome. Other conditions with less established links to the development of follicular cell-derived tumors include ataxia-telangiectasia syndrome, McCune Albright syndrome, and Peutz-Jeghers syndrome. The final group encompasses syndromes typified by NMTC, as well as pure familial (f) PTC with or without oxyphilia, fPTC with multinodular goiter, and fPTC with papillary renal cell carcinoma. This heterogeneous group of diseases does not have the established genotype-phenotype correlations known as in the familial C-cell-derived tumors or medullary thyroid carcinomas (MTC). Clinicians should have the knowledge to identify the likelihood of a patient presenting with thyroid cancer having an additional underlying familial syndrome stemming from characteristics by examining morphological findings that would alert pathologists to recommend that patients undergo molecular genetic evaluation. This review discusses the clinical and pathological findings of patients with familial PTC, such as FAP, CNC, Werner syndrome, and Pendred syndrome, and the heterogeneous group of familial PTC.
    Frontiers in Endocrinology 05/2012; 3:61. DOI:10.3389/fendo.2012.00061
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    • "Other malignancies, including thyroid cancer, hepatoblastoma, and brain tumors have also been associated with FAP. Herraiz and colleagues [22] reported papillary thyroid carcinoma in 12% of 51 patients who had FAP; however, this is much higher than the 1% to 2% reported in other studies [23]. Hepatoblastoma has been reported in 0.4% to 0.6% of children from FAP families, significantly higher than the general population rate of 1/100,000 [24]. "
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    ABSTRACT: Familial colorectal cancer (CRC) accounts for 10% to 20% of all cases of CRC. Two major autosomal dominant forms of heritable CRC are familial adenomatous polyposis (FAP) and Lynch syndrome (also known as hereditary nonpolyposis colorectal cancer). Along with the risk for CRC, both syndromes are associated with elevated risk for other tumors. Improved understanding of the genetic basis of these diseases has not only facilitated the identification and screening of at-risk individuals and the development of prophylactic or early-stage intervention strategies but also provided better insight into sporadic CRC. This article reviews the clinical and genetic characteristics of FAP and Lynch syndrome, recommended screening and surveillance practices, and appropriate surgical and nonsurgical interventions.
    Surgical Clinics of North America 09/2008; 88(4):819-44, vii. DOI:10.1016/j.suc.2008.04.012 · 1.88 Impact Factor
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