Joanna Klubo-Gwiezdzinska1, Lily Yang2, Roxanne Merkel2, Dhaval Patel2, Naris Nilubol2, Maria J Merino3, Monica Skarulis1, Samira M Sadowski2,4, Electron Kebebew2,5. 1. 1 Diabetes, Obesity and Endocrinology Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Cancer Institute, National Institutes of Health , Bethesda, Maryland. 2. 2 Endocrine Oncology Branch, National Cancer Institute, National Institutes of Health , Bethesda, Maryland. 3. 3 Laboratory of Pathology, National Cancer Institute, National Institutes of Health , Bethesda, Maryland. 4. 4 Thoracic and Endocrine Surgery, University Hospitals of Geneva , Geneva, Switzerland . 5. 5 Department of Surgery, The George Washington University School of Medicine and Health Sciences , Washington, District of Columbia.
Abstract
BACKGROUND: Although a family history of thyroid cancer is one of the main risk factors for thyroid cancer, the benefit of screening individuals with a family history of thyroid cancer is not known. METHODS: A prospective cohort study was performed with yearly screening using neck ultrasound and fine-needle aspiration biopsy of thyroid nodule(s) >0.5 cm in at-risk individuals whose relatives were diagnosed with familial non-medullary thyroid cancer (FNMTC). The eligibility criteria were the presence of thyroid cancer in two or more first-degree relatives and being older than seven years of age. Twenty-five kindred were enrolled in the study (12 families with two members affected, and 13 with three or more members affected at enrollment). RESULTS: Thyroid cancer was detected by screening in 4.6% (2/43) of at-risk individuals from families with two members affected, and in 22.7% (15/66) of at-risk members from families with three or more patients affected (p = 0.01). FNMTC detected by screening was characterized by a smaller tumor size (0.7 ± 0.5 cm vs. 1.5 ± 1.1 cm; p = 0.006), a lower rate of central neck lymph node metastases (17.6% vs. 51.1%; p = 0.02), less extensive surgery (hemithyroidectomy 23.5% vs. 0%; p = 0.002), and a lower rate of radioactive iodine therapy (23.5% vs. 79%; p < 0.001) compared to those affected at enrollment. CONCLUSIONS: Screening of at-risk family members resulted in earlier detection of low-risk FNMTC and was associated with a less aggressive initial treatment. Screening with thyroid ultrasound should be considered in kindred with three or more family members affected by FNMTC. Since active screening might be associated with the risk of overtreatment, it should be implemented with caution, specifically in elderly individuals.
BACKGROUND: Although a family history of thyroid cancer is one of the main risk factors for thyroid cancer, the benefit of screening individuals with a family history of thyroid cancer is not known. METHODS: A prospective cohort study was performed with yearly screening using neck ultrasound and fine-needle aspiration biopsy of thyroid nodule(s) >0.5 cm in at-risk individuals whose relatives were diagnosed with familial non-medullary thyroid cancer (FNMTC). The eligibility criteria were the presence of thyroid cancer in two or more first-degree relatives and being older than seven years of age. Twenty-five kindred were enrolled in the study (12 families with two members affected, and 13 with three or more members affected at enrollment). RESULTS:Thyroid cancer was detected by screening in 4.6% (2/43) of at-risk individuals from families with two members affected, and in 22.7% (15/66) of at-risk members from families with three or more patients affected (p = 0.01). FNMTC detected by screening was characterized by a smaller tumor size (0.7 ± 0.5 cm vs. 1.5 ± 1.1 cm; p = 0.006), a lower rate of central neck lymph node metastases (17.6% vs. 51.1%; p = 0.02), less extensive surgery (hemithyroidectomy 23.5% vs. 0%; p = 0.002), and a lower rate of radioactive iodine therapy (23.5% vs. 79%; p < 0.001) compared to those affected at enrollment. CONCLUSIONS: Screening of at-risk family members resulted in earlier detection of low-risk FNMTC and was associated with a less aggressive initial treatment. Screening with thyroid ultrasound should be considered in kindred with three or more family members affected by FNMTC. Since active screening might be associated with the risk of overtreatment, it should be implemented with caution, specifically in elderly individuals.
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