Evidence map›Paper›PMID 32375120›Full record

ArticleEndocrine connections2020

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

Louise Vølund Larsen, Delphine Mirebeau-Prunier, Tsuneo Imai, Cristina Alvarez-Escola, Kornelia Hasse-Lazar, Simona Censi, Luciana A Castroneves, Akihiro Sakurai, Minoru Kihara, Kiyomi Horiuchi and 25 more

Open access · goldAbstract read
In one paragraph

Article in Endocrine connections, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.

0numbers the graph read from it
0cells of the map it votes in
20citing papers in PubMed
2.2field-weighted citation impact, top 12% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

20 citing papers in PubMed, 34 citations in OpenAlex.

  1. Review
  2. Genes · 2025
    Review
  3. Review
  4. Review
  5. Review
  6. Review
  7. Heritable hyperparathyroidism: Genetic insights and clinical implications.Best practice & research. Clinical endocrinology & metabolism · 2025
    Review
  8. Review
  9. Primary Hyperparathyroidism in MEN2 Syndromes.Recent results in cancer research. Fortschritte der Krebsforschung. Progres dans les recherches sur le cancer · 2025
    Review
  10. Familial states of primary hyperparathyroidism: an update.Journal of endocrinological investigation · 2024
    Review
  11. Article
  12. Review
  13. Article
  14. Review
  15. Article
  16. Article
  17. Review
  18. Review
  19. GermlineFrontiers in endocrinology · 2021
    Article
  20. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

35 authors at 20 institutions in 16 countries.

Louise Vølund LarsenDepartment of ORL Head & Neck Surgery and Audiology, Odense University Hospital, Odense, Denmark.
Delphine Mirebeau-PrunierLaboratoire de Biochimie et Biologie Moléculaire, CHU Angers, Université d'Angers, UMR CNRS 6015, INSERM U1083, MITOVASC, Angers, France.
Tsuneo ImaiDepartment of Breast & Endocrine Surgery, National Hospital Organization, Higashinagoya National Hospital, Nagoya, Japan.
Cristina Alvarez-EscolaEndocrinology and Nutrition Department, University Hospital 'La Paz', Madrid, Spain.
Kornelia Hasse-LazarDepartment of Nuclear Medicine and Endocrine Oncology, Maria Sklodowska-Curie National Research Institute of Oncology, Gliwice Branch, Gliwice, Poland.
Simona CensiEndocrinology Unit, Department of Medicine (DIMED), University of Padua, Padua, Italy.
Luciana A CastronevesDepartment of Endocrinology, Endocrine Oncology Unit, Instituto do Cancer do Estado de São Paulo, Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil.
Akihiro SakuraiDepartment of Medical Genetics and Genomics, Sapporo Medical University School of Medicine, Sapporo, Japan.
Minoru KiharaDepartment of Surgery, Kuma Hospital, Kobe, Hyogo, Japan.
Kiyomi HoriuchiDepartment of Breast and Endocrine Surgery, Tokyo Women's Medical University, Tokyo, Japan.
Véronique Dorine BarbuAP-HP, Sorbonne Université, Laboratoire Commun de Biologie et Génétique Moléculaires, Hôpital St Antoine & INSERM CRSA, Paris, France.
Francoise Borson-ChazotRéseau TenGen, Marseille, France.
Anne-Paule Gimenez-RoqueploRéseau TenGen, Marseille, France.
Pascal PignyRéseau TenGen, Marseille, France.
Stephane PinsonRéseau TenGen, Marseille, France.
Nelson WohllkEndocrine Section, Hospital del Salvador, Santiago de Chile, Department of Medicine, University of Chile, Santiago, Chile.
Charis EngGenomic Medicine Institute, Lerner Research Institute and Taussig Cancer Institute, Cleveland Clinic, Cleveland, Ohio, USA.
Berna Imge AydoganDepartment of Endocrinology And Metabolic Diseases, Ankara University School of Medicine, Ankara, Turkey.
Dhananjaya SaranathDepartment of Research Studies & Additional Projects, Cancer Patients Aid Association, Dr. Vithaldas Parmar Research & Medical Centre, Worli, Mumbai, India.
Sarka DvorakovaDepartment of Molecular Endocrinology, Institute of Endocrinology, Prague, Czech Republic.
Frederic CastinettiAix-Marseille Université, Institut National de la Santé et de la Recherche Médicale (INSERM), U1251, Marseille Medical Genetics (MMG), Marseille, France.
Attila PatocsHAS-SE Momentum Hereditary Endocrine Tumors Research Group, Semmelweis University, Budapest, Hungary.
Damijan BergantDepartment of Surgical Oncology, Institute of Oncology, Ljubljana, Slovenia.
Thera P LinksDepartment of Endocrinology, University of Groningen, University Medical Center Groningen, Groningen, Netherlands.
Mariola PeczkowskaDepartment of Hypertension, Institute of Cardiology, Warsaw, Poland.
Ana O HoffDepartment of Endocrinology, University of Groningen, University Medical Center Groningen, Groningen, Netherlands.
Caterina MianEndocrinology Unit, Department of Medicine (DIMED), University of Padua, Padua, Italy.
Trisha DwightCancer Genetics, Kolling Institute, Royal North Shore Hospital and University of Sydney, Sydney, New South Wales, Australia.
Barbara JarzabDepartment of Nuclear Medicine and Endocrine Oncology, Maria Sklodowska-Curie National Research Institute of Oncology, Gliwice Branch, Gliwice, Poland.
Hartmut P H NeumannSection for Preventive Medicine, Medical Center-University of Freiburg, Faculty of Medicine, Albert Ludwigs-University of Freiburg, Freiburg, Germany.
Mercedes RobledoHereditary Endocrine Cancer Group, Spanish National Cancer Research Center (CNIO), Madrid, Spain.
Shinya UchinoDepartment of Endocrine Surgery, Noguchi Thyroid Clinic and Hospital Foundation, Beppu, Oita, Japan.
Anne BarlierRéseau TenGen, Marseille, France.
Christian GodballeDepartment of ORL Head & Neck Surgery and Audiology, Odense University Hospital, Odense, Denmark.
Jes Sloth MathiesenDepartment of ORL Head & Neck Surgery and Audiology, Odense University Hospital, Odense, Denmark.ORCID 0000-0002-9770-3188
Inserm · FROdense University Hospital · DKThe Maria Sklodowska-Curie National Research Institute of Oncology · PLUniversity of Padua · ITAnkara University · TRAssistance Publique Hôpitaux de Marseille · FRCentre for Biomedical Network Research on Rare Diseases · ESCentre Hospitalier Universitaire de Lille · FRCleveland Clinic · USHigashi Nagoya National Hospital · JPHôpital de la Conception · FRHospital Universitario La Paz · ESInstitute of Cardiology · PLInstitute of Endocrinology · CZInstitute of Oncology Ljubljana · SIKuma Hospital · JPLaboratoire de Biologie et Modélisation de la Cellule · FRNoguchi Thyroid Clinic and Hospital Foundation · JPSapporo Medical University · JPSemmelweis University · HU

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

objectiveMultiple 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

methodsAn 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.

resultsTen 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.

conclusionsOur 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.

Indexed as

medullary thyroid carcinomamultiple endocrine neoplasia type 2Apheochromocytomaprimary hyperparathyroidismRET

Identifiers

PMID32375120
PMCPMC7354718
OpenAlexW3023649742

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.