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Primary hyperparathyroidism as first manifestation in multiple endocrine neoplasia type 2A: an international multicenter study
LV. Larsen, D. Mirebeau-Prunier, T. Imai, C. Alvarez-Escola, K. Hasse-Lazar, S. Censi, LA. Castroneves, A. Sakurai, M. Kihara, K. Horiuchi, VD. Barbu, F. Borson-Chazot, AP. Gimenez-Roqueplo, P. Pigny, S. Pinson, N. Wohllk, C. Eng, BI. Aydogan, D....
Jazyk angličtina Země Velká Británie
Typ dokumentu časopisecké články
NLK
Directory of Open Access Journals
od 2012
Free Medical Journals
od 2012
Freely Accessible Journals
od 2012
PubMed Central
od 2012
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od 2012 do 2020
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od 2012-07-01
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od 2012-01-01
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od 2012-01-01
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od 2012
PubMed
32375120
DOI
10.1530/ec-20-0163
Knihovny.cz E-zdroje
- Publikační typ
- časopisecké články MeSH
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.
Department of Breast and Endocrine Surgery Tokyo Women's Medical University Tokyo Japan
Department of Endocrine Surgery Noguchi Thyroid Clinic and Hospital Foundation Beppu Oita Japan
Department of Hypertension Institute of Cardiology Warsaw Poland
Department of Molecular Endocrinology Institute of Endocrinology Prague Czech Republic
Department of ORL Head and Neck Surgery and Audiology Odense University Hospital Odense Denmark
Department of Surgery Kuma Hospital Kobe Hyogo Japan
Department of Surgical Oncology Institute of Oncology Ljubljana Slovenia
Endocrinology and Nutrition Department University Hospital 'La Paz' Madrid Spain
Endocrinology Unit Department of Medicine University of Padua Padua Italy
HAS SE Momentum Hereditary Endocrine Tumors Research Group Semmelweis University Budapest Hungary
Hereditary Endocrine Cancer Group Spanish National Cancer Research Center Madrid Spain
Réseau TenGen Marseille France Laboratoire de Génétique Moléculaire CHU Lyon Lyon France
Citace poskytuje Crossref.org
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- $a Primary hyperparathyroidism as first manifestation in multiple endocrine neoplasia type 2A: an international multicenter study / $c LV. Larsen, D. Mirebeau-Prunier, T. Imai, C. Alvarez-Escola, K. Hasse-Lazar, S. Censi, LA. Castroneves, A. Sakurai, M. Kihara, K. Horiuchi, VD. Barbu, F. Borson-Chazot, AP. Gimenez-Roqueplo, P. Pigny, S. Pinson, N. Wohllk, C. Eng, BI. Aydogan, D. Saranath, S. Dvorakova, F. Castinetti, A. Patocs, D. Bergant, TP. Links, M. Peczkowska, AO. Hoff, C. Mian, T. Dwight, B. Jarzab, HPH. Neumann, M. Robledo, S. Uchino, A. Barlier, C. Godballe, JS. Mathiesen,
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- $a 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.
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