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Tiziana de Filippis Laboratory of Endocrine and Metabolic Research, Milan, Italy
Division of Endocrinology and Metabolic Diseases, IRCCS Istituto Auxologico Italiano, Milan, Italy

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Federica Marelli Laboratory of Endocrine and Metabolic Research, Milan, Italy
Division of Endocrinology and Metabolic Diseases, IRCCS Istituto Auxologico Italiano, Milan, Italy

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Maria Cristina Vigone Department of Pediatrics, Vita-Salute University, San Raffaele Scientific Institute, Milan, Italy

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Marianna Di Frenna Department of Pediatrics, Vita-Salute University, San Raffaele Scientific Institute, Milan, Italy

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Giovanna Weber Department of Pediatrics, Vita-Salute University, San Raffaele Scientific Institute, Milan, Italy

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Luca Persani Laboratory of Endocrine and Metabolic Research, Milan, Italy
Division of Endocrinology and Metabolic Diseases, IRCCS Istituto Auxologico Italiano, Milan, Italy
Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy

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Introduction In humans, heterozygous loss-of-function mutations in NKX2-1 gene (OMIM #600635) have been reported to cause a complex phenotype called brain-lung-thyroid (BLT) syndrome (OMIM #610978) [ 1 , 2 , 3 , 4 , 5 , 6 , 7 ]. The BLT

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Mikael Nilsson University of Gothenburg, Göteborg, Sweden

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E. Dillwyn Williams University of Cambridge, Cambridge, UK

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Dear Editor We thank Drs. Paschou and Vryonidou for their kind remarks about our paper [ 1 ]. The main discussion point they raise is about the similarities between the features of medullary thyroid carcinoma (MTC) and intestinal

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Anne-Sophie Bertrand Department of Interventional Radiology Imaging, Antoine Lacassagne Cancer Research Center, Nice, France

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Antoine Iannessi Department of Interventional Radiology Imaging, Antoine Lacassagne Cancer Research Center, Nice, France

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Isabelle Peyrottes Department of Anatomopathology, Antoine Lacassagne Cancer Research Center, Nice, France

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Alexis Lacout Department of Radiology, Centre médico-chirurgical ELSAN, Aurillac, France

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Antoine Thyss Department of Oncology, Antoine Lacassagne Cancer Research Center, Nice, France

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Pierre-Yves Marcy Department of Interventional Radiology and Diagnostic Imaging, Polyclinique Les Fleurs Groupe ELSAN, Ollioules, France

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Established Facts Distant tumor spread from differentiated thyroid cancer is rare. The most common metastatic sites include bone and lung. Metastases to brain, eye, breast, liver, kidney, muscle, and skin are infrequent

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Zoë Y.G.J. van Lierop Department of Neurology, Maastricht University Medical Centre, Maastricht, The Netherlands

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Sander Jentjens Department of Radiology and Nuclear Medicine, Maastricht University Medical Centre, Maastricht, The Netherlands

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Monique H.M.E. Anten Department of Neurology, Maastricht University Medical Centre, Maastricht, The Netherlands
Neurofibromatosis Expert Team, Maastricht University Medical Centre, Maastricht, The Netherlands

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Roel Wierts Department of Radiology and Nuclear Medicine, Maastricht University Medical Centre, Maastricht, The Netherlands

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Connie T. Stumpel Neurofibromatosis Expert Team, Maastricht University Medical Centre, Maastricht, The Netherlands
Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands

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Bas Havekes Division of Endocrinology, Department of Internal Medicine, Maastricht University Medical Centre, Maastricht, The Netherlands

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Marinus J.P.G. van Kroonenburgh Neurofibromatosis Expert Team, Maastricht University Medical Centre, Maastricht, The Netherlands
Department of Radiology and Nuclear Medicine, Maastricht University Medical Centre, Maastricht, The Netherlands

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populations without a known predisposition to or diagnosis of thyroid disease who underwent 18 F-FDG PET/computed tomography (CT) as “control” groups: (1) patients with sarcoidosis and (2) patients with early stage lung cancer. We hypothesized that patients

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Julia Müller Leibniz Institute for Age Research/Fritz Lipmann Institute, Jena, Germany

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Heike Heuer Leibniz Institute for Age Research/Fritz Lipmann Institute, Jena, Germany

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putative transmembrane domains and both, the N- and the C-terminal domains, are located intracellularly [ 20 , 21 ]. In humans, MCT8 mRNA was found to be highly expressed in liver, kidney, heart, placenta, lung, thyroid as well as in brain and pituitary

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Martina Tavarelli Unité Thyroïde Tumeurs Endocrines, Paris, France

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Julie Sarfati Unité Thyroïde Tumeurs Endocrines, Paris, France

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Christian De Gennes Service de Médecine Interne Immuno-clinique, Paris, France

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Julien Haroche Service de Médecine Interne 2, Paris, France

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Camille Buffet Unité Thyroïde Tumeurs Endocrines, Paris, France

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Cécile Ghander Unité Thyroïde Tumeurs Endocrines, Paris, France

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Jean Marc Simon Service de Radiothérapie, Paris, France

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Fabrice Ménégaux Service de Chirurgie Générale et Digestive, Groupe Hospitalier et Faculté de Médecine Pitié-Salpêtrière, Institut du Cancer, Université Pierre et Marie Curie, Paris, France

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Laurence Leenhardt Unité Thyroïde Tumeurs Endocrines, Paris, France

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What Is Known about This Topic? • Reported cases of hypertrophic osteoarthropathy (HOA) as a paraneoplastic syndrome associated with thyroid cancer are very rare. We report the first case of an unusual presentation of HOA and follicular

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Antonio C. Bianco Division of Endocrinology, Diabetes and Metabolism, University of Miami Miller School of Medicine, Miami, Fla., USA

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Sabina Casula Division of Endocrinology, Diabetes and Metabolism, University of Miami Miller School of Medicine, Miami, Fla., USA

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normalization of serum TSH, T 4 and T 3 concentrations lack sufficient T 3 in discrete brain areas due to a variability/defect in D 2 and/or D 3 pathways or thyroid hormone transport in the brain. Deiodinase Pathways Loss-of-function mutations have

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Daniela Dias Endocrinology Department, Instituto Português de Oncologia de Lisboa Francisco Gentil, Lisbon, Portugal

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Inês Damásio Endocrinology Department, Instituto Português de Oncologia de Lisboa Francisco Gentil, Lisbon, Portugal

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Pedro Marques Endocrinology Department, Hospital de Santa Maria, Centro Hospitalar Universitário de Lisboa Norte (CHULN), Lisbon, Portugal

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Helder Simões Endocrinology Department, Instituto Português de Oncologia de Lisboa Francisco Gentil, Lisbon, Portugal

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Ricardo Rodrigues Unidade de Investigação em Patobiologia Molecular (UIPM), Instituto Português de Oncologia de Lisboa Francisco Gentil, Lisbon, Portugal

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Branca Maria Cavaco Unidade de Investigação em Patobiologia Molecular (UIPM), Instituto Português de Oncologia de Lisboa Francisco Gentil, Lisbon, Portugal

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Valeriano Leite Endocrinology Department, Instituto Português de Oncologia de Lisboa Francisco Gentil, Lisbon, Portugal
Unidade de Investigação em Patobiologia Molecular (UIPM), Instituto Português de Oncologia de Lisboa Francisco Gentil, Lisbon, Portugal
Nova Medical School: Faculdade de Ciências Médicas da Universidade Nova de Lisboa, Lisbon, Portugal

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Established facts Patients with radioactive iodine-refractory differentiated thyroid cancer account for two-thirds of patients with distant metastasis. In the past years, novel targeted therapies directed to specific genes have been

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M. Schlumberger Department of Nuclear Medicine and Endocrine Oncology, Institute Gustave-Roussy and University Paris Sud, Villejuif, France

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L. Bastholt Department of Oncology, Odense University Hospital, Odense, Denmark

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H. Dralle Department of Surgery, Martin Luther University, Halle-Wittenberg Medical Faculty, Halle/Saale, Germany

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B. Jarzab MSC Memorial Cancer Center and Institute of Oncology, Gliwice, Poland

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F. Pacini Department of Endocrinologia, University of Siena, Siena, Italy

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J.W.A. Smit Department of Endocrinology, Leiden University Medical Centre, Leiden, The Netherlands

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multiple organs including lungs, bones and liver, and more rarely brain, skin and breast, and are frequently associated with persistent disease in the neck [ 6 ]. In patients with recurrent disease, an acceptable quality of life can usually be maintained

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Francesca Orsolini Department of Clinical and Experimental Medicine, Endocrine Unit, University of Pisa, Pisa, Italy

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Alessandro Prete Department of Clinical and Experimental Medicine, Endocrine Unit, University of Pisa, Pisa, Italy

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Pierpaolo Falcetta Department of Clinical and Experimental Medicine, Endocrine Unit, University of Pisa, Pisa, Italy

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Domenico Canale Department of Clinical and Experimental Medicine, Endocrine Unit, University of Pisa, Pisa, Italy

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Fulvio Basolo Department of Surgical, Medical and Molecular Pathology and Critical Care Medicine, University of Pisa, Pisa, Italy

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Greta Alì Department of Surgical, Medical and Molecular Pathology and Critical Care Medicine, University of Pisa, Pisa, Italy

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Francesca Manassero Division of Urology, Department of Translational Research and of New Surgical and Medical Technologies, University of Pisa, Pisa, Italy

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Paolo Vitti Department of Clinical and Experimental Medicine, Endocrine Unit, University of Pisa, Pisa, Italy

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Rossella Elisei Department of Clinical and Experimental Medicine, Endocrine Unit, University of Pisa, Pisa, Italy

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Eleonora Molinaro Department of Clinical and Experimental Medicine, Endocrine Unit, University of Pisa, Pisa, Italy

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Introduction Multiple endocrine neoplasia 2A (MEN2A) syndrome is an autosomal dominant disorder that includes medullary thyroid carcinoma (MTC), pheochromocytoma and hyperparathyroidism. MTC is the most common manifestation (90–100%) of MEN2A

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