Familial medullary thyroid carcinoma: case report and literature review
DOI:
https://doi.org/10.31053/1853.0605.v75.n4.20947Keywords:
proto-oncogene proteins c-ret, sequence analysis, DNA, thyroid neoplasms, multiple endocrine neoplasiaAbstract
Medullary thyroid carcinoma (MTC) is a malignant tumour of the calcitonin-secreting parafollicular C cells of the thyroid gland. Up to 25% of MTC are associated to pathogenic germinal variants on the proto-oncogene RET (locus 10q11.2), which cause Familial Medullary Thyroid Carcinoma (FMTC) or Multiple Endocrine Neoplasia type 2 (MEN2); genetic conditions inherited with autosomal dominant pattern. We present the first report of a Peruvian family with FMTC and a germinal pathogenic variant on RET proto-oncogene, identified with Sanger sequencing. This manuscript also shows a literature review of this hereditary cancer syndrome, where we highlight the relevance of primary prevention and the potential effect on public health in healthy carriers of germinal pathogenic variants.
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References
Leboulleux S, Baudin E, Travagli J-P, Schlumberger M. Medullary thyroid carcinoma. Clin Endocrinol (Oxf). septiembre de 2004;61(3):299-310.
Xu L, Wang W-B, Zhao Y-P, Zhang T-P, Liao Q, Chen G, et al. Medullary thyroid carcinoma with nodular goiter carries an excellent prognosis. J Surg Oncol. 1 de agosto de 2012;106(2):169-73.
OMIM [Internet]. Disponible en: http://www.omim.org/entry/120435?search=lynch%20syndrome&highlight=syndromic%20lynch%20syndrome
American Thyroid Association Guidelines Task Force, Kloos RT, Eng C, Evans DB, Francis GL, Gagel RF, et al. Medullary thyroid cancer: management guidelines of the American Thyroid Association. Thyroid Off J Am Thyroid Assoc. junio de 2009;19(6):565-612.
Raue F, Rondot S, Schulze E, Szpak-Ulczok S, Jarzab B, Frank-Raue K. Clinical utility gene card for: multiple endocrine neoplasia type 2. Eur J Hum Genet EJHG. enero de 2012;20(1).
de Groot JWB, Links TP, Plukker JTM, Lips CJM, Hofstra RMW. RET as a diagnostic and therapeutic target in sporadic and hereditary endocrine tumors. Endocr Rev. agosto de 2006;27(5):535-60.
Schuffenecker I, Ginet N, Goldgar D, Eng C, Chambe B, Boneu A, et al. Prevalence and parental origin of de novo RET mutations in multiple endocrine neoplasia type 2A and familial medullary thyroid carcinoma. Le Groupe d’Etude des Tumeurs a Calcitonine. Am J Hum Genet. enero de 1997;60(1):233-7.
Wells SA, Pacini F, Robinson BG, Santoro M. Multiple endocrine neoplasia type 2 and familial medullary thyroid carcinoma: an update. J Clin Endocrinol Metab. agosto de 2013;98(8):3149-64.
Brandi ML, Gagel RF, Angeli A, Bilezikian JP, Beck-Peccoz P, Bordi C, et al. Guidelines for diagnosis and therapy of MEN type 1 and type 2. J Clin Endocrinol Metab. diciembre de 2001;86(12):5658-71.
Eng C, Clayton D, Schuffenecker I, Lenoir G, Cote G, Gagel RF, 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. 20 de noviembre de 1996;276(19):1575-9.
Chen H, Sippel RS, O’Dorisio MS, Vinik AI, Lloyd RV, Pacak K, et al. The North American Neuroendocrine Tumor Society consensus guideline for the diagnosis and management of neuroendocrine tumors: pheochromocytoma, paraganglioma, and medullary thyroid cancer. Pancreas. agosto de 2010;39(6):775-83.
Tuttle RM, Ball DW, Byrd D, Daniels GH, Dilawari RA, Doherty GM, et al. Medullary carcinoma. J Natl Compr Cancer Netw JNCCN. mayo de 2010;8(5):512-30.
Alvandi E, Akrami SM, Chiani M, Hedayati M, Nayer BN, Tehrani MRM, et al. Molecular analysis of the RET proto-oncogene key exons in patients with medullary thyroid carcinoma: a comprehensive study of the Iranian population. Thyroid Off J Am Thyroid Assoc. abril de 2011;21(4):373-82.
Brauckhoff M, Machens A, Hess S, Lorenz K, Gimm O, Brauckhoff K, et al. Premonitory symptoms preceding metastatic medullary thyroid cancer in MEN 2B: An exploratory analysis. Surgery. diciembre de 2008;144(6):1044-1050; discussion 1050-1053.
Jindrichová S, Vcelák J, Vlcek P, Neradilová M, Nemec J, Bendlová B. Screening of six risk exons of the RET proto-oncogene in families with medullary thyroid carcinoma in the Czech Republic. J Endocrinol. noviembre de 2004;183(2):257-65.
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