1. Primary hyperparathyroidism as first manifestation in multiple endocrine neoplasia type 2A
- Author
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Louise Vølund Larsen, Hartmut P. H. Neumann, Anne Barlier, Trisha Dwight, Dhananjaya Saranath, Attila Patócs, Tsuneo Imai, Christian Godballe, Françoise Borson-Chazot, Pascal Pigny, Nelson Wohllk, Anne-Paule Gimenez-Roqueplo, Akihiro Sakurai, Frederic Castinetti, Minoru Kihara, Thera P. Links, Kornelia Hasse-Lazar, Damijan Bergant, Jes Sloth Mathiesen, Véronique Barbu, Barbara Jarzab, Berna İmge Aydoğan, Stéphane Pinson, Delphine Mirebeau-Prunier, Shinya Uchino, Luciana A. Castroneves, Mercedes Robledo, Charis Eng, Ana O. Hoff, Simona Censi, Mariola Pęczkowska, Kiyomi Horiuchi, Caterina Mian, Cristina Álvarez-Escolá, Sarka Dvorakova, Damage and Repair in Cancer Development and Cancer Treatment (DARE), and Guided Treatment in Optimal Selected Cancer Patients (GUTS) more...
- Subjects
Pediatrics ,medicine.medical_specialty ,PHEOCHROMOCYTOMA ,Medullary cavity ,endocrine system diseases ,MEDULLARY-THYROID CARCINOMA ,Primary hyperparathyroidism ,Endocrinology, Diabetes and Metabolism ,030209 endocrinology & metabolism ,lcsh:Diseases of the endocrine glands. Clinical endocrinology ,Pheochromocytoma ,Thyroid carcinoma ,03 medical and health sciences ,0302 clinical medicine ,Endocrinology ,Germline mutation ,PROGNOSTIC-FACTORS ,medullary thyroid carcinoma ,Medullary thyroid carcinoma ,Internal Medicine ,medicine ,RET PROTOONCOGENE ,primary hyperparathyroidism ,lcsh:RC648-665 ,business.industry ,multiple endocrine neoplasia type 2A ,MUTATIONS ,Research ,medicine.disease ,MEN 2A ,Multiple endocrine neoplasia type 2A ,CODON 634 ,PREVALENCE ,Multicenter study ,030220 oncology & carcinogenesis ,Multiple Endocrine Neoplasia Type 2a ,SURGICAL-MANAGEMENT ,Registry data ,DISEASE PHENOTYPE ,business ,RET - 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. more...
- Published
- 2020
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