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Margarida M Moura, Branca M Cavaco, and Valeriano Leite

mutated (total mutated samples/total samples tested) for that particular tumor type. RAS mutations have also been detected in medullary thyroid carcinomas (MTCs), and this subject will be further discussed in section ‘ RAS mutations in MTC

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Libero Santarpia, George A Calin, Liana Adam, Lei Ye, Alfredo Fusco, Serena Giunti, Christina Thaller, Laura Paladini, Xinna Zhang, Camilo Jimenez, Francesco Trimarchi, Adel K El-Naggar, and Robert F Gagel

Introduction Medullary thyroid carcinoma (MTC) is a neuroendocrine tumour thought to originate from neural crest parafollicular C-cells. Approximately 25% of MTC cases occur in the context of autosomal dominant multiple endocrine neoplasia syndrome

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Marta Kaczmarek-Ryś, Katarzyna Ziemnicka, Andrzej Pławski, Bartłomiej Budny, Michał Michalak, Szymon Hryhorowicz, Justyna Hoppe-Gołębiewska, Paweł Boruń, Monika Gołąb, Małgorzata Czetwertyńska, Maria Sromek, Marlena Szalata, Marek Ruchała, and Ryszard Słomski

Introduction Medullary thyroid carcinoma (MTC) occurs sporadically (sMTC) or as an inherited cancer (hMTC). The hereditary form may be present as a component of the multiple endocrine neoplasia type 2 syndrome (MEN2) or as an isolated MTC

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Rodrigo A Toledo, Roxanne Hatakana, Delmar M Lourenço Jr, Susan C Lindsey, Cleber P Camacho, Marcio Almeida, José V Lima Jr, Tomoko Sekiya, Elena Garralda, Michel S Naslavsky, Guilherme L Yamamoto, Monize Lazar, Osorio Meirelles, Tiago J P Sobreira, Maria Lucia Lebrao, Yeda A O Duarte, John Blangero, Mayana Zatz, Janete M Cerutti, Rui M B Maciel, and Sergio P A Toledo

Introduction MEN2 (MIM #164761) is a dominantly inherited multiglandular tumour syndrome that presents with a high penetrance of medullary thyroid carcinoma (MTC; observed in virtually 100% of cases), phaeochromocytoma (50%) and parathyroid adenoma

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Cristina Rodríguez-Antona, Iván Muñoz-Repeto, Lucia Inglada-Pérez, Aguirre A de Cubas, Veronika Mancikova, Marta Cañamero, Agnieszka Maliszewska, Álvaro Gómez, Rocío Letón, Luis J Leandro-García, Iñaki Comino-Méndez, Lara Sanchez, Cristina Álvarez-Escolá, Javier Aller, Alberto Cascón, and Mercedes Robledo

Introduction Medullary thyroid carcinoma (MTC) arises from the parafollicular cells of the thyroid gland. Sporadic MTC accounts for 75% of the cases, and the remaining 25% is inherited in nature as part of multiple endocrine neoplasia type 2

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Lucieli Ceolin, Marta Amaro da Silveira Duval, Antônio Felippe Benini, Carla Vaz Ferreira, and Ana Luiza Maia

Introduction Medullary thyroid carcinoma (MTC) is a malignant tumor originating in parafollicular or C cells of the thyroid. The main secretory product of MTC is calcitonin, a specific and highly sensitive biomarker that is produced by normal

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Pierpaolo Trimboli, Ettore Seregni, Giorgio Treglia, Maria Alevizaki, and Luca Giovanella

Introduction Medullary thyroid carcinoma (MTC) is a malignancy that originates from thyroid parafollicular C cells and accounts for about 5% of thyroid cancers ( Kloos et al . 2009 ). In the majority of cases (i.e., four out of every five), this

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M Cecília Martins-Costa, Lucas L Cunha, Susan C Lindsey, Cleber P Camacho, Renata P Dotto, Gilberto K Furuzawa, M Sharmila A Sousa, Teresa S Kasamatsu, Ilda S Kunii, Márcio M Martins, Alberto L Machado, João R M Martins, Magnus R Dias-da-Silva, and Rui M B Maciel

associated pheochromocytoma (PHEO) and primary hyperparathyroidism (HPTH), MEN 2A is subclassified as familial medullary thyroid carcinoma (FMTC) ( Wells et al. 2015 ). The understanding of the genotype/phenotype correlation of RET mutations has

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Huy Gia Vuong, Toru Odate, Hanh T T Ngo, Thong Quang Pham, Thao T K Tran, Kunio Mochizuki, Tadao Nakazawa, Ryohei Katoh, and Tetsuo Kondo

clinicopathological features of sporadic MTCs are presented in Table 2 . Table 2 Associations of RET , RAS mutation and RET M918T mutation with the clinicopathological parameters of sporadic medullary thyroid carcinoma. Clinicopathological

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Viktor Johanson, Håkan Ahlman, Peter Bernhardt, Svante Jansson, Lars Kölby, Fredrik Persson, Göran Stenman, Christina Swärd, Bo Wängberg, Mats Stridsberg, and Ola Nilsson

Introduction Medullary thyroid carcinoma (MTC) accounts for 5–10% of all thyroid cancer. Most cases are sporadic but about 25% occur in patients with the multiple endocrine neoplasia type 2 (MEN2) syndrome ( Brauckhoff et al