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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Tiziana de Filippis, Federica Marelli, Maria Cristina Vigone, Marianna Di Frenna, Giovanna Weber, and Luca Persani
Mikael Nilsson and E. Dillwyn Williams
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
Anne-Sophie Bertrand, Antoine Iannessi, Isabelle Peyrottes, Alexis Lacout, Antoine Thyss, and Pierre-Yves Marcy
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
Zoë Y.G.J. van Lierop, Sander Jentjens, Monique H.M.E. Anten, Roel Wierts, Connie T. Stumpel, Bas Havekes, and Marinus J.P.G. van Kroonenburgh
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
Julia Müller and Heike Heuer
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
Martina Tavarelli, Julie Sarfati, Christian De Gennes, Julien Haroche, Camille Buffet, Cécile Ghander, Jean Marc Simon, Fabrice Ménégaux, and Laurence Leenhardt
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
Antonio C. Bianco and Sabina Casula
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
Daniela Dias, Inês Damásio, Pedro Marques, Helder Simões, Ricardo Rodrigues, Branca Maria Cavaco, and Valeriano Leite
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
M. Schlumberger, L. Bastholt, H. Dralle, B. Jarzab, F. Pacini, and J.W.A. Smit
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
Francesca Orsolini, Alessandro Prete, Pierpaolo Falcetta, Domenico Canale, Fulvio Basolo, Greta Alì, Francesca Manassero, Paolo Vitti, Rossella Elisei, and Eleonora Molinaro
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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