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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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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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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

Open access

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

Introduction Medullary thyroid carcinoma (MTC) is a neuroendocrine tumor arising from the calcitonin secreting parafollicular C cells of the thyroid gland. MTC is divided into sporadic MTC (SMTC) and hereditary MTC (HMTC) accounting for

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Joana Simões-Pereira, Daniel Macedo and Maria João Bugalho

Introduction Thyroid cancer usually has a favorable prognosis with a reported 10-year survival for differentiated and medullary thyroid carcinoma of approximately 80–95% ( 1 ) and 68–85% ( 2 , 3 ), respectively. Distant metastases occur in a

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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

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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

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, Françoise Borson-Chazot, Anne-Paule Gimenez-Roqueplo, Pascal Pigny, Stephane Pinson, Nelson Wohllk, Charis Eng, Berna İmge Aydoğan, Dhananjaya Saranath, Sarka Dvorakova, Frederic Castinetti, Patocs Attila, 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

OBJECTIVE: Multiple endocrine neoplasia type 2A (MEN 2A) is a rare syndrome caused by RET germline mutations, and have been associated with primary hyperparathyroidism (PHPT) in up to 30% of cases. Recommendations on RET screening in patients with apparently sporadic PHPT are unclear. We aimed to estimate the prevalence of cases presenting with PHPT as first manifestation among MEN 2A index cases and to characterize the former cases.

DESIGN AND METHODS: An international retrospective multicenter study of 1085 MEN 2A index cases. Experts from MEN 2 centres all over the world were invited to participate. A total of 19 centers in 17 different countries provided registry data of index cases followed from 1974 to 2017.

RESULTS: Ten cases presented with PHPT as their first manifestation of MEN 2A, yielding a prevalence of 0.9% (95% CI: 0.4-1.6). 9/10 cases were diagnosed with medullary thyroid carcinoma (MTC) in relation to parathyroid surgery and 1/10 was diagnosed 15 years after parathyroid surgery. 7/9 cases with full TNM data were node-positive at MTC diagnosis.

CONCLUSIONS: Our data suggest that the prevalence of MEN 2A index cases that present with PHPT as their first manifestation is very low. The majority of index cases presenting with PHPT as first manifestation, have synchronous MTC, often node-positive. Thus, our observations suggest that not performing RET mutation analysis in patients with apparently sporadic PHPT would result in an extremely low false negative rate, if no other MEN 2A component, specifically MTC, are found during work up or resection of PHPT.

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Simonetta Piana, Eleonora Zanetti, Alessandra Bisagni, Alessia Ciarrocchi, Davide Giordano, Federica Torricelli, Teresa Rossi and Moira Ragazzi

carcinoma; HA, Hürthle cell adenoma; HCC, Hürthle cell carcinoma; HTT, hyalinizing trabecular tumor; MTC, medullary thyroid carcinoma; NA, not available; NH, nodular hyperplasia; PDTC, poorly differentiated thyroid carcinoma; PTC, papillary thyroid carcinoma

Open access

Katerina Saltiki, Elli Anagnostou, George Simeakis, Sofia Kouki, Anastasia Angelopoulou, Leda Sarika, Alexandra Papathoma and Maria Alevizaki

Introduction Medullary thyroid carcinoma (MTC) accounts for 5–10% of all thyroid malignancies. About 25% of MTCs are familial (fMTC) and are described as multiple endocrine neoplasia syndromes: MEN2A (associated with pheochromocytoma and