Primary hyperparathyroidism as first manifestation in multiple endocrine neoplasia type 2A: an international multicenter study-Reference-Cited by-同舟云学术

Primary hyperparathyroidism as first manifestation in multiple endocrine neoplasia type 2A: an international multicenter study

Published:2020-06 Issue:6 Volume:9 Page:489-497
ISSN:2049-3614
Container-title:Endocrine Connections
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Author:

Larsen Louise Vølund¹,Mirebeau-Prunier Delphine²,Imai Tsuneo³,Alvarez-Escola Cristina⁴,Hasse-Lazar Kornelia⁵,Censi Simona⁶,Castroneves Luciana A⁷,Sakurai Akihiro⁸,Kihara Minoru⁹,Horiuchi Kiyomi¹⁰,Barbu Véronique Dorine¹¹¹²,Borson-Chazot Francoise¹²¹³,Gimenez-Roqueplo Anne-Paule¹²¹⁴¹⁵,Pigny Pascal¹²¹⁶,Pinson Stephane¹²¹⁷,Wohllk Nelson¹⁸,Eng Charis¹⁹,Aydogan Berna Imge²⁰,Saranath Dhananjaya²¹,Dvorakova Sarka²²,Castinetti Frederic²³²⁴,Patocs Attila²⁵,Bergant Damijan²⁶,Links Thera P²⁷,Peczkowska Mariola²⁸,Hoff Ana O²⁷,Mian Caterina⁶,Dwight Trisha²⁹,Jarzab Barbara³⁰,Neumann Hartmut P H³¹,Robledo Mercedes³²³³,Uchino Shinya³⁴,Barlier Anne¹²³⁵,Godballe Christian¹,Mathiesen Jes Sloth¹³⁶

Affiliation:

1. 1Department of ORL Head & Neck Surgery and Audiology, Odense University Hospital, Odense, Denmark

2. 2Laboratoire de Biochimie et Biologie Moléculaire, CHU Angers, Université d’Angers, UMR CNRS 6015, INSERM U1083, MITOVASC, Angers, France

3. 3Department of Breast & Endocrine Surgery, National Hospital Organization, Higashinagoya National Hospital, Nagoya, Japan

4. 4Endocrinology and Nutrition Department, University Hospital ‘La Paz’, Madrid, Spain

5. 5Department of Nuclear Medicine and Endocrine Oncology, Maria Sklodowska-Curie National Research Institute of Oncology, Gliwice Branch, Gliwice, Poland

6. 6Endocrinology Unit, Department of Medicine (DIMED), University of Padua, Padua, Italy

7. 7Department of Endocrinology, Endocrine Oncology Unit, Instituto do Cancer do Estado de São Paulo, Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil

8. 8Department of Medical Genetics and Genomics, Sapporo Medical University School of Medicine, Sapporo, Japan

9. 9Department of Surgery, Kuma Hospital, Kobe, Hyogo, Japan

10. 10Department of Breast and Endocrine Surgery, Tokyo Women’s Medical University, Tokyo, Japan

11. 11AP-HP, Sorbonne Université, Laboratoire Commun de Biologie et Génétique Moléculaires, Hôpital St Antoine & INSERM CRSA, Paris, France

12. 12Réseau TenGen, Marseille, France

13. 13Fédération d’Endocrinologie, Hospices Civils de Lyon, Université Lyon 1, France

14. 14Service de Génétique, AP-HP, Hôpital européen Georges Pompidou, Paris, France

15. 15Université de Paris, PARCC, INSERM, Paris, France

16. 16Laboratoire de Biochimie et Oncologie Moléculaire, CHU Lille, Lille, France

17. 17Laboratoire de Génétique Moléculaire, CHU Lyon, Lyon, France

18. 18Endocrine Section, Hospital del Salvador, Santiago de Chile, Department of Medicine, University of Chile, Santiago, Chile

19. 19Genomic Medicine Institute, Lerner Research Institute and Taussig Cancer Institute, Cleveland Clinic, Cleveland, Ohio, USA

20. 20Department of Endocrinology And Metabolic Diseases, Ankara University School of Medicine, Ankara, Turkey

21. 21Department of Research Studies & Additional Projects, Cancer Patients Aid Association, Dr. Vithaldas Parmar Research & Medical Centre, Worli, Mumbai, India

22. 22Department of Molecular Endocrinology, Institute of Endocrinology, Prague, Czech Republic

23. 23Aix-Marseille Université, Institut National de la Santé et de la Recherche Médicale (INSERM), U1251, Marseille Medical Genetics (MMG), Marseille, France

24. 24Department 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

25. 25HAS-SE Momentum Hereditary Endocrine Tumors Research Group, Semmelweis University, Budapest, Hungary

26. 26Department of Surgical Oncology, Institute of Oncology, Ljubljana, Slovenia

27. 27Department of Endocrinology, University of Groningen, University Medical Center Groningen, Groningen, Netherlands

28. 28Department of Hypertension, Institute of Cardiology, Warsaw, Poland

29. 29Cancer Genetics, Kolling Institute, Royal North Shore Hospital and University of Sydney, Sydney, New South Wales, Australia

30. 30Department of Nuclear Medicine and Endocrine Oncology, Maria Sklodowska-Curie National Research Institute of Oncology, Gliwice Branch, Gliwice, Poland

31. 31Section for Preventive Medicine, Medical Center-University of Freiburg, Faculty of Medicine, Albert Ludwigs-University of Freiburg, Freiburg, Germany

32. 32Hereditary Endocrine Cancer Group, Spanish National Cancer Research Center (CNIO), Madrid, Spain

33. 33Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain

34. 34Department of Endocrine Surgery, Noguchi Thyroid Clinic and Hospital Foundation, Beppu, Oita, Japan

35. 35Aix Marseille Univ, APHM, INSERM, MMG, Laboratory of Molecular Biology, Hospital La Conception, Marseille, France

36. 36Department of Clinical Research, University of Southern Denmark, Odense, Denmark

Abstract

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.

Publisher

Bioscientifica

Subject

Endocrinology,Endocrinology, Diabetes and Metabolism,Internal Medicine

Link

https://ec.bioscientifica.com/downloadpdf/journals/ec/9/6/EC-20-0163.xml

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