Abstract
Thyroid cancer is common and has a steadily rising incidence [1]. Papillary thyroid cancer (PTC) is the most common histologic subtype, accounting for more than 90% of all thyroid cancers. Over 90% of thyroid cancers are sporadic, with less than 10% being familial [2]. Familial thyroid cancers can be divided into familial non-medullary thyroid cancers (FNMTC), or familial medullary thyroid cancers (FMTC) according to their cell of origin. Among FNMTC, about 5% are associated with defined syndromes and occur with a preponderance of non-thyroidal tumours [3] (see Diagram 14.1). The majority however are non-syndromic FNMTC. FMTC, on the other hand, is most commonly associated with multiple endocrine neoplasia (MEN). The presence of certain histological subtypes should also prompt consideration of familial thyroid cancer.
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References
Davies L, Welch HG. Current thyroid cancer trends in the United States. JAMA Otolaryngol Head Neck Surg. 2014;140(4):317–22.
Xing M. Molecular pathogenesis and mechanisms of thyroid cancer. Nat Rev Cancer. 2013;13(3):184–99.
Nose V. Familial non-medullary thyroid carcinoma: an update. Endocr Pathol. 2008;19(4):226–40.
Zhang Q, et al. Clinical analysis of familial nonmedullary thyroid carcinoma. World J Surg. 2016;40(3):570–3.
Waite KA, Eng C. Protean PTEN: form and function. Am J Hum Genet. 2002;70(4):829–44.
Pilarski R, et al. Cowden syndrome and the PTEN hamartoma tumor syndrome: systematic review and revised diagnostic criteria. J Natl Cancer Inst. 2013;105(21):1607–16.
Mester J, Eng C. Estimate of de novo mutation frequency in probands with PTEN hamartoma tumor syndrome. Genet Med. 2012;14(9):819–22.
Tan MH, et al. A clinical scoring system for selection of patients for PTEN mutation testing is proposed on the basis of a prospective study of 3042 probands. Am J Hum Genet. 2011;88(1):42–56.
Hall JE, Abdollahian DJ, Sinard RJ. Thyroid disease associated with Cowden syndrome: a meta-analysis. Head Neck. 2013;35(8):1189–94.
Ngeow J, et al. Incidence and clinical characteristics of thyroid cancer in prospective series of individuals with Cowden and Cowden-like syndrome characterized by germline PTEN, SDH, or KLLN alterations. J Clin Endocrinol Metab. 2011;96(12):E2063–71.
Smith JR, et al. Thyroid nodules and cancer in children with PTEN hamartoma tumor syndrome. J Clin Endocrinol Metab. 2011;96(1):34–7.
Ni Y, et al. Germline SDHx variants modify breast and thyroid cancer risks in Cowden and Cowden-like syndrome via FAD/NAD-dependant destabilization of p53. Hum Mol Genet. 2012;21(2):300–10.
Bennett KL, Mester J, Eng C. Germline epigenetic regulation of KILLIN in Cowden and Cowden-like syndrome. JAMA. 2010;304(24):2724–31.
Orloff MS, et al. Germline PIK3CA and AKT1 mutations in Cowden and Cowden-like syndromes. Am J Hum Genet. 2013;92(1):76–80.
Veeman MT, Axelrod JD, Moon RT. A second canon. Functions and mechanisms of beta-catenin-independent Wnt signaling. Dev Cell. 2003;5(3):367–77.
Septer S, et al. Thyroid cancer complicating familial adenomatous polyposis: mutation spectrum of at-risk individuals. Hered Cancer Clin Pract. 2013;11(1):13.
Houlston RS, Stratton MR. Genetics of non-medullary thyroid cancer. QJM. 1995;88(10):685–93.
Son EJ, Nose V. Familial follicular cell-derived thyroid carcinoma. Front Endocrinol (Lausanne). 2012;3:61.
Levy RA, et al. Cribriform-morular variant of papillary thyroid carcinoma: an indication to screen for occult FAP. Familial Cancer. 2014;13(4):547–51.
Uchino S, et al. Age- and gender-specific risk of thyroid cancer in patients with familial adenomatous polyposis. J Clin Endocrinol Metab. 2016;101(12):4611–7.
Groen EJ, et al. Extra-intestinal manifestations of familial adenomatous polyposis. Ann Surg Oncol. 2008;15(9):2439–50.
Cetta F, et al. Germline mutations of the APC gene in patients with familial adenomatous polyposis-associated thyroid carcinoma: results from a European cooperative study. J Clin Endocrinol Metab. 2000;85(1):286–92.
Pradhan D, Sharma A, Mohanty SK. Cribriform-morular variant of papillary thyroid carcinoma. Pathol Res Pract. 2015;211(10):712–6.
Jarrar AM, et al. Screening for thyroid cancer in patients with familial adenomatous polyposis. Ann Surg. 2011;253(3):515–21.
Correa R, Salpea P, Stratakis CA. Carney complex: an update. Eur J Endocrinol. 2015;173(4):M85–97.
Stratakis CA. Carney complex: a familial lentiginosis predisposing to a variety of tumors. Rev Endocr Metab Disord. 2016;17(3):367–71.
Rothenbuhler A, Stratakis CA. Clinical and molecular genetics of carney complex. Best Pract Res Clin Endocrinol Metab. 2010;24(3):389–99.
Stratakis CA, Kirschner LS, Carney JA. Clinical and molecular features of the carney complex: diagnostic criteria and recommendations for patient evaluation. J Clin Endocrinol Metab. 2001;86(9):4041–6.
Slade I, et al. DICER1 syndrome: clarifying the diagnosis, clinical features and management implications of a pleiotropic tumour predisposition syndrome. J Med Genet. 2011;48(4):273–8.
de Kock L, et al. Exploring the association between DICER1 mutations and differentiated thyroid carcinoma. J Clin Endocrinol Metab. 2014;99(6):E1072–7.
De Felice M, et al. A mouse model for hereditary thyroid dysgenesis and cleft palate. Nat Genet. 1998;19(4):395–8.
Gudmundsson J, et al. Common variants on 9q22.33 and 14q13.3 predispose to thyroid cancer in European populations. Nat Genet. 2009;41(4):460–4.
Uchino S, et al. Familial nonmedullary thyroid carcinoma characterized by multifocality and a high recurrence rate in a large study population. World J Surg. 2002;26(8):897–902.
Wang X, et al. Endocrine tumours: familial nonmedullary thyroid carcinoma is a more aggressive disease: a systematic review and meta-analysis. Eur J Endocrinol. 2015;172(6):R253–62.
Capezzone M, et al. Familial non-medullary thyroid carcinoma displays the features of clinical anticipation suggestive of a distinct biological entity. Endocr Relat Cancer. 2008;15(4):1075–81.
Sadowski SM, et al. Prospective screening in familial nonmedullary thyroid cancer. Surgery. 2013;154(6):1194–8.
Alsanea O, Clark OH. Familial thyroid cancer. Curr Opin Oncol. 2001;13(1):44–51.
Marsh DJ, et al. Somatic mutations in the RET proto-oncogene in sporadic medullary thyroid carcinoma. Clin Endocrinol. 1996;44(3):249–57.
Santoro M, Melillo RM, Fusco A. RET/PTC activation in papillary thyroid carcinoma: European journal of endocrinology prize lecture. Eur J Endocrinol. 2006;155(5):645–53.
Gimm O, et al. Mutation analysis reveals novel sequence variants in NTRK1 in sporadic human medullary thyroid carcinoma. J Clin Endocrinol Metab. 1999;84(8):2784–7.
Raue F, Frank-Raue K. Genotype-phenotype correlation in multiple endocrine neoplasia type 2. Clinics (Sao Paulo). 2012;67(Suppl 1):69–75.
Morrison PJ, Atkinson AB. Genetic aspects of familial thyroid cancer. Oncologist. 2009;14(6):571–7.
Nose V. Familial thyroid cancer: a review. Mod Pathol. 2011;24(Suppl 2):S19–33.
Eng C, et al. The relationship between specific RET proto-oncogene mutations and disease phenotype in multiple endocrine neoplasia type 2. International RET mutation consortium analysis. JAMA. 1996;276(19):1575–9.
American Thyroid Association Guidelines Task Force, et al. Medullary thyroid cancer: management guidelines of the American Thyroid Association. Thyroid. 2009;19(6):565–612.
Clark OH. Controversies in familial thyroid cancer 2014. Ulus Cerrahi Derg. 2014;30(2):62–6.
Kebebew E, et al. Medullary thyroid carcinoma: clinical characteristics, treatment, prognostic factors, and a comparison of staging systems. Cancer. 2000;88(5):1139–48.
Salehian B, Samoa R. RET gene abnormalities and thyroid disease: who should be screened and when. J Clin Res Pediatr Endocrinol. 2013;5(Suppl 1):70–8.
Vriens MR, et al. Clinical features and genetic predisposition to hereditary nonmedullary thyroid cancer. Thyroid. 2009;19(12):1343–9.
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Lee, J., Ngeow, J. (2018). Inherited Thyroid Cancer. In: Parameswaran, R., Agarwal, A. (eds) Evidence-Based Endocrine Surgery. Springer, Singapore. https://doi.org/10.1007/978-981-10-1124-5_14
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DOI: https://doi.org/10.1007/978-981-10-1124-5_14
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