ReviewThe Journal of clinical endocrinology and metabolism2013
Multiple endocrine neoplasia type 2 and familial medullary thyroid carcinoma: an update.
Review in The Journal of clinical endocrinology and metabolism, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 117 papers, 4 of them syntheses that pooled it.
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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.
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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.
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Who cites it
117 citing papers in PubMed, 4 syntheses or guidelines pooled it, 330 citations in OpenAlex.
- Genetic drivers of etiologic heterogeneity in thyroid cancer.Nature communications · 2026Pooled it
- Cancer Predisposition Genes in Adolescents and Young Adults (AYAs): a Review Paper from the Italian AYA Working Group.Current oncology reports · 2022Pooled it
- MEN 2A-related cutaneous lichen amyloidosis: report of three kindred and systematic literature review of clinical, biochemical and molecular characteristics.Familial cancer · 2016Pooled it
- A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment.Genetics in medicine : official journal of the American College of Medical Genetics · 2015Guideline
- Iron and Other Metal Ions in Human Health and Disease.MedComm · 2026Review
- Diagnostic Accuracy of Calcitonin, Procalcitonin, proGRP, miR-375 and FNA-Washout Calcitonin for Medullary Thyroid Carcinoma: A Systematic Review and Diagnostic Meta-Analysis.Life (Basel, Switzerland) · 2026Review
- FROM DISCOVERY SCIENCE TO THE CLINIC - HERITABLE ENDOCRINE CANCERS AND RELATED DISORDERS: Functional imaging in hereditary endocrine neoplasms: evolving modalities and clinical implications.Endocrine-related cancer · 2026Review
- Life-Threatening Gastrointestinal Bleeding Revealing a Rare Coexistence of Ampullary Ganglioneuroma and Pancreatic Neuroendocrine Tumor: A Case Report.Diagnostics (Basel, Switzerland) · 2026Article
- Landscape of Genomic Mechanisms of Resistance to Selective RET Inhibitors in RET-Altered Solid Tumors: Analysis of the RETgistry Global Consortium.Clinical cancer research : an official journal of the American Association for Cancer Research · 2026Article
- Bilateral pheochromocytoma: case series and review of treatment strategies based on genetic mutations.Translational andrology and urology · 2026Article
- Landscape of Phenotype-Genotype Correlations in Romanian Patients with Medullary Thyroid Carcinoma.Cancers · 2025Article
- Review
- Optimal timing of early thyroidectomy in young patients with MEN2A and its impact on disease outcome.Endocrine · 2025Observational
- Prevalence and genetics of "de novo" MEN2 syndromes.The Journal of clinical endocrinology and metabolism · 2025Article
- Sporadic medullary thyroid carcinoma with a rare RET transmembrane domain mutation (A641R) that responds to selpercatinib.The oncologist · 2025Article
- p.M918W, a novel RET germline variant: a case report and literature review of the possible association of multiple endocrine neoplasia type 2B and Charcot-Marie-Tooth disease.Endocrine journal · 2025Review
- A Comparative Study on the Multidimensional Features of Hereditary and Sporadic Medullary Thyroid Carcinoma Patients: A Single-Center Retrospective Study.Medicina (Kaunas, Lithuania) · 2025Article
- Article
- The diagnostic challenges of medullary thyroid carcinoma: A practical guide for cytopathologists.Cancer cytopathology · 2025Review
- Kinome profiling reveals pathogenic variant specific protein signalling networks in MEN2 children with Medullary Thyroid Cancer.NPJ precision oncology · 2025Article
57 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors at 4 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
contextOver the last decade, our knowledge of the multiple endocrine neoplasia (MEN) type 2 syndromes MEN2A and MEN2B and familial medullary thyroid carcinoma (FMTC) has expanded greatly. In this manuscript, we summarize how recent discoveries have enhanced our understanding of the molecular basis of these diseases and led to improvements in the diagnosis and management of affected patients. EVIDENCE ACQUISITION: We reviewed the English literature through PubMed from 2000 to the present, using the search terms medullary thyroid carcinoma, multiple endocrine neoplasia type 2, familial medullary thyroid carcinoma, RET proto-oncogene, and calcitonin. EVIDENCE SYNTHESIS: Over 70 RET mutations are known to cause MEN2A, MEN2B, or FMTC, and recent findings from studies of large kindreds with these syndromes have clouded the relationship between genotype and phenotype, primarily because of the varied clinical presentation of different families with the same RET mutation. This clinical variability has also confounded decisions about the timing of prophylactic thyroidectomy for MTC, the dominant endocrinopathy associated with these syndromes. A distinct advance has been the demonstration through phase II and phase III clinical trials that molecular targeted therapeutics are effective in the treatment of patients with locally advanced or metastatic MTC.
conclusionsThe effective management of patients with MEN2A, MEN2A, and FMTC depends on an understanding of the variable behavior of disease expression in patients with a specific RET mutation. Information gained from molecular testing, biochemical analysis, and clinical evaluation is important in providing effective management of patients with either early or advanced-stage MTC.
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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.