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Prevalence of thyroid diseases in familial adenomatous polyposis: a systematic review and meta-analysis

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Abstract

Thyroid cancer (TC) is a known extra-intestinal manifestation and contributes to the mortality and morbidity in patients with familial adenomatous polyposis (FAP). Its exact prevalence is not well established and recent studies have shown an increasing number of TC in this patient population. The prevalence of benign thyroid masses and endocrinologic thyroid disorders are also poorly described. We conducted a systematic review and meta-analysis by using a random-effects model to characterize TC and estimated the prevalence of thyroid diseases in FAP patients. Twelve studies (n = 9821) were included. Pooled prevalence of TC, benign thyroid masses, and endocrinologic thyroid disorders in FAP were 2.6% [95% confidence interval (CI) 1.3–4.8], 48.8% [95% CI 33.8–64.0], and 6.9% [95% CI 4.5–10.3] respectively. Subgroup analyses revealed higher prevalence of TC in studies with fewer participants, studies that used screening ultrasound to diagnose TC, and studies that were published after 2002. TC diagnosis preceded the diagnosis of FAP in 34% of the patients. The means age at diagnosis of FAP and TC were 29 and 31 years, respectively. 95% of the patients were female and the most common pathology was of papillary subtype (83.3%). Most mutations (79.2%) were located at the 5′ end of APC gene. In summary, benign thyroid disorders are common in FAP, yet, TC is an uncommon phenomenon. Certain patient subset, such as young female with APC mutation at the 5′ end, might benefit from routine surveillance ultrasound.

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Acknowledgements

We would like to express our gratitude to Marian MacMaster and Joan Yanicke, our lovely librarians at the Medical Library, Metrowest Medical Center, for checking the relevant search terms and helping us retrieve all the relevant articles.

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Authors and Affiliations

  1. Department of Internal Medicine, MetroWest Medical Center, 115 Lincoln St., Framingham, MA, 01702, USA

    Jirat Chenbhanich, Amporn Atsawarungruangkit & Tanit Phupitakphol

  2. Section of Endocrinology, Diabetes, Nutrition and Weight Management, Boston Medical Center, Boston, MA, 02118, USA

    Sira Korpaisarn

  3. Research Division, Joslin Diabetes Center, Boston, MA, 02215, USA

    Soravis Osataphan

  4. Department of Pathology, Faculty of Medicine, Srinakharinwirot University, Bangkok, 10110, Thailand

    Soravis Osataphan

  5. Division of Medical Genetics and Genomics, Department of Medicine, Faculty of Medicine, Chulalongkorn University, Bangkok, 10330, Thailand

    Prasit Phowthongkum

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  1. Jirat Chenbhanich
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Correspondence to Jirat Chenbhanich.

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Chenbhanich, J., Atsawarungruangkit, A., Korpaisarn, S. et al. Prevalence of thyroid diseases in familial adenomatous polyposis: a systematic review and meta-analysis. Familial Cancer 18, 53–62 (2019). https://doi.org/10.1007/s10689-018-0085-3

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