Cancer thyroïdien familial non médullaire: actualités cliniques et génétiques
(2016) Revue médicale de Liège — Vol. 71, n° 12, p. 557-561 (2016)
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- (en) [A Familial Non Medullary Thyroid Carcinoma (FNMTC) : a clinical and genetic update]. The syndrome of Familial Non Medullary Thyroid Carcinoma (FNMTC) includes two or more patients with an isolated non-medullary thyroid cancer (papillary, follicular, anaplastic) within the same family. To diagnose FNMTC, the clinician must exclude a syndromic presentation such as the syndromes of Cowden, Gardner or Werner, and the Carney Complex. Up to now, a hundred families with FNMTC have been genetically studied, including forms with (Ch19p13.2) or without oxyphilia (Ch2q21), in association with a multinodular goiter (Ch14q32), or with a renal cancer (Ch1q21). Several candidate genes of susceptibility have been proposed: SRGAP1, NKX2-1, FOXE1 and HABP2. So far, it is considered that familial cases represent less than 5 % of thyroid cancers. Although rare, these cases represent a unique opportunity to improve our understanding of thyroid cancer. The identification of candidate genes will enrich our knowledge of thyroid cancer pathophysiology. Based on the literature and our experience of the follow-up of eight families with FNMTC, we discuss epidemiological, clinical, pathological and genetic aspects of FNMTC with a view to improve the diagnosis and treatment of this disease.
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Valdes-Socin, H., Palmeira, L., Burlacu, M. C., Daly, A. F., Bours, V., & Beckers, A. (2016). Cancer thyroïdien familial non médullaire: actualités cliniques et génétiques. Revue médicale de Liège, 71(12), 557-561. https://hdl.handle.net/2078.5/180820 (Original work published 2016)