Search Results
Search for other papers by Cristina Lamas in
Google Scholar
PubMed
Search for other papers by Elena Navarro in
Google Scholar
PubMed
Search for other papers by Anna Casterás in
Google Scholar
PubMed
Search for other papers by Paloma Portillo in
Google Scholar
PubMed
Search for other papers by Victoria Alcázar in
Google Scholar
PubMed
Search for other papers by María Calatayud in
Google Scholar
PubMed
Search for other papers by Cristina Álvarez-Escolá in
Google Scholar
PubMed
Search for other papers by Julia Sastre in
Google Scholar
PubMed
Search for other papers by Evangelina Boix in
Google Scholar
PubMed
Search for other papers by Lluis Forga in
Google Scholar
PubMed
Search for other papers by Almudena Vicente in
Google Scholar
PubMed
Search for other papers by Josep Oriola in
Google Scholar
PubMed
Search for other papers by Jordi Mesa in
Google Scholar
PubMed
Search for other papers by Nuria Valdés in
Google Scholar
PubMed
Primary hyperparathyroidism is the most frequent manifestation of multiple endocrine neoplasia type 1 (MEN1) syndrome. Bone and renal complications are common. Surgery is the treatment of choice, but the best timing for surgery is controversial and predictors of persistence and recurrence are not well known. Our study describes the clinical characteristics and the surgical outcomes, after surgery and in the long term, of the patients with MEN1 and primary hyperparathyroidism included in the Spanish Registry of Multiple Endocrine Neoplasia, Pheochromocytomas and Paragangliomas (REGMEN). Eighty-nine patients (49 men and 40 women, 34.2 ± 13 years old) were included. Sixty-four out of the 89 underwent surgery: a total parathyroidectomy was done in 13 patients, a subtotal parathyroidectomy in 34 and a less than subtotal parathyroidectomy in 15. Remission rates were higher after a total or a subtotal parathyroidectomy than after a less than subtotal (3/4 and 20/22 vs 7/12, P < 0.05), without significant differences in permanent hypoparathyroidism (1/5, 9/23 and 0/11, N.S.). After a median follow-up of 111 months, 20 of the 41 operated patients with long-term follow-up had persistent or recurrent hyperparathyroidism. We did not find differences in disease-free survival rates between different techniques, patients with or without permanent hypoparathyroidism and patients with different mutated exons, but a second surgery was more frequent after a less than subtotal parathyroidectomy.
Search for other papers by Louise Vølund Larsen in
Google Scholar
PubMed
Search for other papers by Delphine Mirebeau-Prunier in
Google Scholar
PubMed
Search for other papers by Tsuneo Imai in
Google Scholar
PubMed
Search for other papers by Cristina Alvarez-Escola in
Google Scholar
PubMed
Search for other papers by Kornelia Hasse-Lazar in
Google Scholar
PubMed
Search for other papers by Simona Censi in
Google Scholar
PubMed
Search for other papers by Luciana A Castroneves in
Google Scholar
PubMed
Search for other papers by Akihiro Sakurai in
Google Scholar
PubMed
Search for other papers by Minoru Kihara in
Google Scholar
PubMed
Search for other papers by Kiyomi Horiuchi in
Google Scholar
PubMed
Réseau TenGen, Marseille, France
Search for other papers by Véronique Dorine Barbu in
Google Scholar
PubMed
Fédération d’Endocrinologie, Hospices Civils de Lyon, Université Lyon 1, France
Search for other papers by Francoise Borson-Chazot in
Google Scholar
PubMed
Service de Génétique, AP-HP, Hôpital européen Georges Pompidou, Paris, France
Université de Paris, PARCC, INSERM, Paris, France
Search for other papers by Anne-Paule Gimenez-Roqueplo in
Google Scholar
PubMed
Laboratoire de Biochimie et Oncologie Moléculaire, CHU Lille, Lille, France
Search for other papers by Pascal Pigny in
Google Scholar
PubMed
Laboratoire de Génétique Moléculaire, CHU Lyon, Lyon, France
Search for other papers by Stephane Pinson in
Google Scholar
PubMed
Search for other papers by Nelson Wohllk in
Google Scholar
PubMed
Search for other papers by Charis Eng in
Google Scholar
PubMed
Search for other papers by Berna Imge Aydogan in
Google Scholar
PubMed
Search for other papers by Dhananjaya Saranath in
Google Scholar
PubMed
Search for other papers by Sarka Dvorakova in
Google Scholar
PubMed
Department of Endocrinology, Assistance Publique-Hôpitaux de Marseille (AP-HM), Hôpital de la Conception, Centre de Référence des Maladies Rares de l’hypophyse HYPO, Marseille, France
Search for other papers by Frederic Castinetti in
Google Scholar
PubMed
Search for other papers by Attila Patocs in
Google Scholar
PubMed
Search for other papers by Damijan Bergant in
Google Scholar
PubMed
Search for other papers by Thera P Links in
Google Scholar
PubMed
Search for other papers by Mariola Peczkowska in
Google Scholar
PubMed
Search for other papers by Ana O Hoff in
Google Scholar
PubMed
Search for other papers by Caterina Mian in
Google Scholar
PubMed
Search for other papers by Trisha Dwight in
Google Scholar
PubMed
Search for other papers by Barbara Jarzab in
Google Scholar
PubMed
Search for other papers by Hartmut P H Neumann in
Google Scholar
PubMed
Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain
Search for other papers by Mercedes Robledo in
Google Scholar
PubMed
Search for other papers by Shinya Uchino in
Google Scholar
PubMed
Aix Marseille Univ, APHM, INSERM, MMG, Laboratory of Molecular Biology, Hospital La Conception, Marseille, France
Search for other papers by Anne Barlier in
Google Scholar
PubMed
Search for other papers by Christian Godballe in
Google Scholar
PubMed
Department of Clinical Research, University of Southern Denmark, Odense, Denmark
Search for other papers by Jes Sloth Mathiesen in
Google Scholar
PubMed
Objective
Multiple endocrine neoplasia type 2A (MEN 2A) is a rare syndrome caused by RET germline mutations and has been associated with primary hyperparathyroidism (PHPT) in up to 30% of cases. Recommendations on RET screening in patients with apparently sporadic PHPT are unclear. We aimed to estimate the prevalence of cases presenting with PHPT as first manifestation among MEN 2A index cases and to characterize the former cases.
Design and methods
An international retrospective multicenter study of 1085 MEN 2A index cases. Experts from MEN 2 centers all over the world were invited to participate. A total of 19 centers in 17 different countries provided registry data of index cases followed from 1974 to 2017.
Results
Ten cases presented with PHPT as their first manifestation of MEN 2A, yielding a prevalence of 0.9% (95% CI: 0.4–1.6). 9/10 cases were diagnosed with medullary thyroid carcinoma (MTC) in relation to parathyroid surgery and 1/10 was diagnosed 15 years after parathyroid surgery. 7/9 cases with full TNM data were node-positive at MTC diagnosis.
Conclusions
Our data suggest that the prevalence of MEN 2A index cases that present with PHPT as their first manifestation is very low. The majority of index cases presenting with PHPT as first manifestation have synchronous MTC and are often node-positive. Thus, our observations suggest that not performing RET mutation analysis in patients with apparently sporadic PHPT would result in an extremely low false-negative rate, if no other MEN 2A component, specifically MTC, are found during work-up or resection of PHPT.
