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Carina Hasenoehrl, Gert Schwach, Nassim Ghaffari-Tabrizi-Wizsy, Robert Fuchs, Nadine Kretschmer, Rudolf Bauer, and Roswitha Pfragner

Introduction Medullary thyroid carcinomas (MTC) arise from the parafollicular C-cells of the thyroid and account for 5–10% of all thyroid cancers ( 1 , 2 ). MTCs are calcitonin-producing tumors that occur sporadically in 70–80% of the cases

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Aleksandra Kukulska, Jolanta Krajewska, Zofia Kolosza, Ewa Paliczka-Cieslik, Aleksandra Kropinska, Agnieszka Pawlaczek, Zbigniew Puch, Kornelia Ficek, Teresa Lisik, Dorota Sygula, Zbigniew Wygoda, Jozef Roskosz, Jerzy Wydmanski, and Barbara Jarzab

Introduction Medullary thyroid carcinoma (MTC) is a rarely diagnosed malignant neoplasm arising from C cells and constitutes only 5% of all thyroid cancers. MTC may occur as a sporadic disease or as part of hereditary multiple endocrine

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M Ingenwerth, T Brandenburg, D Führer-Sakel, M Goetz, F Weber, H Dralle, H-U Schildhaus, K W Schmid, and S Theurer

Introduction Medullary thyroid carcinomas (MTC) are rare and aggressive neuroendocrine thyroid tumors composed of cells with evidence of C-cell differentiation. They account for only 2–3% of thyroid malignancies, but are causing about 15% of

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Irfan Vardarli, Manuel Weber, Frank Weidemann, Dagmar Führer, Ken Herrmann, and Rainer Görges

Introduction Calcitonin (Ctn) is secreted by the C-cells of the thyroid ( 1 ) and is a valuable tumor marker in patients with medullary thyroid carcinoma (MTC) ( 2 ). Medullary thyroid cancer, originated from the C-cells ( 3 ), occurs rarely

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Jes Sloth Mathiesen, Jens Peter Kroustrup, Peter Vestergaard, Per Løgstrup Poulsen, Åse Krogh Rasmussen, Ulla Feldt-Rasmussen, Sten Schytte, Stefano Christian Londero, Henrik Baymler Pedersen, Christoffer Holst Hahn, Jens Bentzen, Sören Möller, Mette Gaustadnes, Maria Rossing, Finn Cilius Nielsen, Kim Brixen, Christian Godballe, and Danish Thyroid Cancer Group (DATHYRCA)

Introduction Medullary thyroid carcinoma (MTC) is a rare neuroendocrine tumor with an incidence of 0.19 per 100,000 per year and a prevalence of 3.8 per 100,000 inhabitants. MTC is divided into a sporadic and hereditary type accounting for

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Malgorzata Oczko-Wojciechowska, Agnieszka Czarniecka, Tomasz Gawlik, Barbara Jarzab, and Jolanta Krajewska

discoveries related to the mechanism of development of sporadic medullary thyroid carcinoma, despite the use of the NGS technique enabling the sequencing of many thousands of genes, full exome or genome, is related to two aspects. It was associated with the

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Rui M B Maciel, Cleber P Camacho, Lígia V M Assumpção, Natassia E Bufalo, André L Carvalho, Gisah A de Carvalho, Luciana A Castroneves, Francisco M de Castro Jr, Lucieli Ceolin, Janete M Cerutti, Rossana Corbo, Tânia M B L Ferraz, Carla V Ferreira, M Inez C França, Henrique C R Galvão, Fausto Germano-Neto, Hans Graf, Alexander A L Jorge, Ilda S Kunii, Márcio W Lauria, Vera L G Leal, Susan C Lindsey, Delmar M Lourenço Jr, Léa M Z Maciel, Patrícia K R Magalhães, João R M Martins, M Cecília Martins-Costa, Gláucia M F S Mazeto, Anelise I Impellizzeri, Célia R Nogueira, Edenir I Palmero, Cencita H C N Pessoa, Bibiana Prada, Débora R Siqueira, Maria Sharmila A Sousa, Rodrigo A Toledo, Flávia O F Valente, Fernanda Vaisman, Laura S Ward, Shana S Weber, Rita V Weiss, Ji H Yang, Magnus R Dias-da-Silva, Ana O Hoff, Sergio P A Toledo, and Ana L Maia

(MEN2B; OMIM #162300), according to its clinical manifestations, characterized by a high penetrance of medullary thyroid carcinoma (MTC), and to a lesser degree, pheochromocytoma (PHEO) and primary hyperparathyroidism (PHPT) ( 1 , 2 , 3 , 4

Open access

Louise Vølund Larsen, Delphine Mirebeau-Prunier, Tsuneo Imai, Cristina Alvarez-Escola, Kornelia Hasse-Lazar, Simona Censi, Luciana A Castroneves, Akihiro Sakurai, Minoru Kihara, Kiyomi Horiuchi, Véronique Dorine Barbu, Francoise Borson-Chazot, Anne-Paule Gimenez-Roqueplo, Pascal Pigny, Stephane Pinson, Nelson Wohllk, Charis Eng, Berna Imge Aydogan, Dhananjaya Saranath, Sarka Dvorakova, Frederic Castinetti, Attila Patocs, Damijan Bergant, Thera P Links, Mariola Peczkowska, Ana O Hoff, Caterina Mian, Trisha Dwight, Barbara Jarzab, Hartmut P H Neumann, Mercedes Robledo, Shinya Uchino, Anne Barlier, Christian Godballe, and Jes Sloth Mathiesen

is divided into MEN 2A and MEN 2B with a point prevalence of 13–24 per million and 1–2 per million, respectively ( 7 , 8 , 9 , 10 ). Virtually all patients with MEN 2A develop medullary thyroid carcinoma (MTC), while lower numbers develop

Open access

Xiao-Ping Qi, Jian-Zhong Peng, Xiao-Wei Yang, Zhi-Lie Cao, Xiu-Hua Yu, Xu-Dong Fang, Da-Hong Zhang, and Jian-Qiang Zhao

dermatomes T2–T6 ( 1 , 2 , 3 , 4 , 5 , 6 , 7 ). Reportedly, the following two germline mutations exist in intracellular tyrosine kinase domains: the RET V804M mutation within exon 14 in an American female with medullary thyroid carcinoma (MTC) and CLA

Open access

Nassim Ghaffari-Tabrizi-Wizsy, Christina Angelika Passegger, Laura Nebel, Fabian Krismer, Gudrun Herzer-Schneidhofer, Gert Schwach, and Roswitha Pfragner

Schlumberger M Carlomagno F Baudin E Bidart JM Santoro M . New therapeutic approaches to treat medullary thyroid carcinoma . Nature Clinical Practice Endocrinology and Metabolism 2008 4 22 – 32 . ( https://doi.org/10.1038/ncpendmet0717 ) 10