Multiple endocrine neoplasia type 2B is a rare syndrome caused mainly by Met918Thr germline RET mutation, and characterised by medullary thyroid carcinoma, phaeochromocytoma, and extra-endocrine features. Data are scarce on the natural history of multiple endocrine neoplasia type 2B. We aimed to advance understanding of the phenotype and natural history of multiple endocrine neoplasia type 2B, to increase awareness and improve detection.
Natural history, treatment, and long-term follow up of patients with multiple endocrine neoplasia type 2B: an international, multicentre, retrospective study / Castinetti, Frederic; Waguespack, Steven G; Machens, Andreas; Uchino, Shinya; Lazaar, Kornelia; Sanso, Gabriella; Else, Tobias; Dvorakova, Sarka; Qi, Xiao Ping; Elisei, Rossella; Maia, Ana Luisa; Glod, John; Lourenço, Delmar Muniz; Valdes, Nuria; Mathiesen, Jes; Wohllk, Nelson; Bandgar, Tushar R; Drui, Delphine; Korbonits, Marta; Druce, Maralyn R; Brain, Caroline; Kurzawinski, Tom; Patocs, Atila; Bugalho, Maria Joao; Lacroix, Andre; Caron, Philippe; Fainstein-Day, Patricia; Borson Chazot, Francoise; Klein, Marc; Links, Thera P; Letizia, Claudio; Fugazzola, Laura; Chabre, Olivier; Canu, Letizia; Cohen, Regis; Tabarin, Antoine; Spehar Uroic, Anita; Maiter, Dominique; Laboureau, Sandrine; Mian, Caterina; Peczkowska, Mariola; Sebag, Frederic; Brue, Thierry; Mirebeau-Prunier, Delphine; Leclerc, Laurence; Bausch, Birke; Berdelou, Amandine; Sukurai, Akihiro; Vlcek, Petr; Krajewska, Jolanta; Barontini, Marta; Vaz Ferreira Vargas, Carla; Valerio, Laura; Ceolin, Lucieli; Akshintala, Srivandana; Hoff, Ana; Godballe, Christian; Jarzab, Barbara; Jimenez, Camilo; Eng, Charis; Imai, Tsuneo; Schlumberger, Martin; Grubbs, Elizabeth; Dralle, Henning; Neumann, Hartmut P; Baudin, Eric. - In: THE LANCET DIABETES & ENDOCRINOLOGY. - ISSN 2213-8587. - (2019). [10.1016/S2213-8587(18)30336-X]
Natural history, treatment, and long-term follow up of patients with multiple endocrine neoplasia type 2B: an international, multicentre, retrospective study
Letizia, Claudio;VALERIO, LAURA;Schlumberger, Martin;
2019
Abstract
Multiple endocrine neoplasia type 2B is a rare syndrome caused mainly by Met918Thr germline RET mutation, and characterised by medullary thyroid carcinoma, phaeochromocytoma, and extra-endocrine features. Data are scarce on the natural history of multiple endocrine neoplasia type 2B. We aimed to advance understanding of the phenotype and natural history of multiple endocrine neoplasia type 2B, to increase awareness and improve detection.File | Dimensione | Formato | |
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