Article

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: 6.53). 03/2007; 5(3):367-73. DOI: 10.1016/j.cgh.2006.10.019
Source: PubMed

ABSTRACT 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.

Download full-text

Full-text

Available from: Gayun Chan-Smutko, Jul 06, 2015
0 Followers
 · 
81 Views
  • Source
    [Show abstract] [Hide abstract]
    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 · 1.93 Impact Factor
  • Source
    [Show abstract] [Hide abstract]
    ABSTRACT: Colorectal cancer (CRC) is one of the most common cancer diagnoses that a digestive disease specialist or primary care physician will encounter in a patient in their practice [1]. While fewer than 10% of the cases occur within the setting of a hereditary colorectal cancer syndrome (HCCS), the burden of the disease to the patient, family, and provider is greater than when it occurs sporadically [2]. The hereditary nature of autosomal dominant CRC was first reported nearly 150 years ago in a patient with familial adenomatous polyposis (FAP) [3, 4]. It took nearly 100 years to discover that the genetic cause of FAP was due to dysfunction of the APC gene on chromosome 5 [5]. In a similar but historically more recent discovery, the ­clinical pedigree of hereditary nonpolyposis colorectal cancer (HNPCC) was recognized in a family with numerous cases of colorectal, uterine, and gastric cancers, well before the genetic basis of Lynch Syndrome (LS) due to defective DNA ­mismatch repair (MMR) gene function was discovered in the early 1990s [6]. KeywordsHereditary non polyposis colorectal cancer-Familial adenomatous polyposis-Genetics
    01/1970: pages 25-41;
  • [Show abstract] [Hide abstract]
    ABSTRACT: Pseudoexhaustive test techniques based on partition and segmentation are described. These methods provide a higher fault coverage than standard automatic-test-program generation programs, and neither fault simulation nor fault modeling is required. Finding optimal partitions of combinational networks is an np-complete problem; an algorithm based on a heuristic approach that is faster and more reliable than the simplified algorithm of F. Hirose and V. Singh (1982) is developed. The adopted criteria assure a CPU executing time proportional to the number of input signals. Experimental results obtained from its application to professional circuits are presented
    European Test Conference, 1989., Proceedings of the 1st; 05/1989