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; UCHINO, SHINYA; HASSE-LAZAR, KORNELIA; ELSE, TOBIAS; MACHENS, ANDREAS; DVORAKOVA, SARKA; ELISEI, ROSSELLA; SANSO, GABRIELLA; MAIA, ANA LUISA; LOURENÇO, DELMAR MUNIZ; QI, XIAO PING; VALDES, NURIA; WOHLLK, NELSON; GLOD, JOHN; KORBONITS, MARTA; BANDGAR, TUSHAR R; MATHIESEN, JES; KURZAWINSKI, TOM; DRUCE, MARALYN R; DRUI, DELPHINE; LACROIX, ANDRE; PATOCS, ATILA; BRAIN, CAROLINE; BORSON CHAZOT, FRANCOISE; CARON, PHILIPPE; BUGALHO, MARIA JOAO; LETIZIA, CLAUDIO; KLEIN, MARC; FAINSTEIN-DAY, PATRICIA; FUGAZZOLA, LAURA; CANU, LETIZIA; LINKS, THERA P; SPEHAR UROIC, ANITA; COHEN, REGIS; CHABRE, OLIVIER; MIAN, CATERINA; MAITER, DOMINIQUE; TABARIN, ANTOINE; BRUE, THIERRY; PECZKOWSKA, MARIOLA; LABOUREAU, SANDRINE; BAUSCH, BIRKE; MIREBEAU-PRUNIER, DELPHINE; SEBAG, FREDERIC; VLCEK, PETR; BERDELOU, AMANDINE; LECLERC, LAURENCE; KRAJEWSKA, JOLANTA; VAZ FERREIRA VARGAS, CARLA; SUKURAI, AKIHIRO; AKSHINTALA, SRIVANDANA; VALERIO, LAURA; BARONTINI, MARTA; JARZAB, BARBARA; HOFF, ANA; CEOLIN,

The Lancet Diabetes and Endocrinology

Lancet Publishing Group

Año: 2019 vol. 7 p. 213 - 220

2213-8587

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