1. Natural history, treatment, and long-term follow up of patients with multiple endocrine neoplasia type 2B: an international, multicentre, retrospective study.
- Author
-
UCL - (SLuc) Service d'endocrinologie et de nutrition, UCL - SSS/IREC/EDIN - Pôle d'endocrinologie, diabète et nutrition, Castinetti, Frederic, Waguespack, Steven G, Machens, Andreas, Uchino, Shinya, Hasse-Lazar, 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, UCL - (SLuc) Service d'endocrinologie et de nutrition, UCL - SSS/IREC/EDIN - Pôle d'endocrinologie, diabète et nutrition, Castinetti, Frederic, Waguespack, Steven G, Machens, Andreas, Uchino, Shinya, Hasse-Lazar, 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, and Baudin, Eric
- Abstract
BACKGROUND: 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. METHODS: This study was a retrospective, multicentre, international study in patients carrying the Met918Thr RET variant with no age restrictions. The study was done with registry data from 48 centres globally. Data from patients followed-up from 1970 to 2016 were retrieved from May 1, 2016, to May 31, 2018. Our primary objectives were to determine overall survival, and medullary thyroid carcinoma-specific survival based on whether the patient had undergone early thyroidectomy before the age of 1 year. We also assessed remission of medullary thyroid carcinoma, incidence and treatment of phaeochromocytoma, and the penetrance of extra-endocrine features. FINDINGS: 345 patients were included, of whom 338 (98%) had a thyroidectomy. 71 patients (21%) of the total cohort died at a median age of 25 years (range <1-59). Thyroidectomy was done before the age of 1 year in 20 patients, which led to long-term remission (ie, undetectable calcitonin level) in 15 (83%) of 18 individuals (2 patients died of causes unrelated to medullary thyroid carcinoma). Medullary thyroid carcinoma-specific survival curves did not show any significant difference between patients who had thyroidectomy before or after 1 year (comparison of survival curves by log-rank test: p=0·2; hazard ratio 0·35; 95% CI 0.07-1.74). However, there was a significant difference in remission status between patients who underwent thyroidectomy before and after the age of 1 year (p<0·0001). There was a significant difference in remission status between patients who underwen
- Published
- 2019