ReviewFrontiers in endocrinology2018
The Importance of an Early and Accurate MEN1 Diagnosis.
Review in Frontiers in endocrinology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers, 2 of them syntheses that pooled it.
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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.
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Who cites it
30 citing papers in PubMed, 2 syntheses or guidelines pooled it, 58 citations in OpenAlex.
- Risk of Malignant Neoplasm in Patients with Primary Hyperparathyroidism: A Systematic Review and Meta-analysis.Calcified tissue international · 2024Pooled it
- Clinical Relevance of Genetic Analysis in Patients With Pituitary Adenomas: A Systematic Review.Frontiers in endocrinology · 2019Pooled it
- Pathogenic mobile element insertion in theJournal of medical genetics · 2026Article
- Living with Legacy: Outcomes and Future Implications for Offspring of Patients with MEN1.Journal of the ASEAN Federation of Endocrine Societies · 2026Review
- The clinical challenge of MEN1 phenocopies: insights from a multicentric national retrospective study.Journal of endocrinological investigation · 2026Article
- Genotype-phenotype correlation in multiple endocrine neoplasia type 1.JCI insight · 2025Article
- Screening and surveillance practices for Multiple Endocrine Neoplasia type 1-related Neuroendocrine Tumours in European Neuroendocrine Tumor Society Centers of Excellence (ENETS CoE)-An ENETS MEN1 task force questionnaire study.Journal of neuroendocrinology · 2025Article
- Epidemiology and clinical outcomes of clinically suspected multiple endocrine neoplasia type 1 in South Korea: a nationwide cohort study.Frontiers in endocrinology · 2025Article
- Improving early diagnosis of multiple endocrine neoplasia type 1 by assessing the gastrointestinal symptoms, hypercalcemia, and elevated serum gastrin.World journal of gastroenterology · 2024Article
- Childhood Multiple Endocrine Neoplasia (MEN) Syndromes: Genetics, Clinical Heterogeneity and Modifying Genes.Journal of clinical medicine · 2024Review
- Genetics of hereditary forms of primary hyperparathyroidism.Hormones (Athens, Greece) · 2024Review
- Genotype-negative multiple endocrine neoplasia type 1 with prolactinoma, hyperparathyroidism, and subclinical Cushing's syndrome accompanied by hyperglycemia: a case report.Frontiers in endocrinology · 2024Article
- Article
- Multiple endocrine neoplasia type 1 familial case in a patient with insulinoma and primary hyperparathyroidism: First report in literature and in the Costa Rican population of the c.1224_1225insGTCC pathogenic variant.Clinical case reports · 2023Article
- Clinical and molecular features of four Brazilian families with multiple endocrine neoplasia type 1.Frontiers in endocrinology · 2023Article
- Neoplastic signatures: Comparative proteomics of canine hepatobiliary neuroendocrine tumors to normal niche tissue.PloS one · 2023Article
- Approach of Multiple Endocrine Neoplasia Type 1 (MEN1) Syndrome-Related Skin Tumors.Diagnostics (Basel, Switzerland) · 2022Review
- Update on the clinical management of multiple endocrine neoplasia type 1.Clinical endocrinology · 2022Review
- Analysis of 55 patients with multiple endocrine neoplasia type 1-associated insulinoma from a single center in China.Orphanet journal of rare diseases · 2022Article
- Multiple endocrine neoplasia type 1 involving both the liver and lung: a case report.World journal of surgical oncology · 2022Article
Corrections and comments
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Multiple Endocrine Neoplasia type 1 (MEN1) is a rare autosomal dominant inherited condition, causing significant morbidity, and a reduction of life expectancy. A timely and accurate diagnosis of MEN1 is paramount to improve disease outcomes. This enables early identification of tumor manifestations allowing timely treatment for reducing morbidity and improving survival. Current management of MEN1 poses two challenges regarding the MEN1 diagnosis: diagnostic delay and the issue of phenocopies. A delay in diagnosis can be caused by a delay in identifying the index case, and by a delay in identifying affected family members of an index case. At present, lag time between diagnosis of MEN1 in index cases and genetic testing of family members was estimated to be 3.5 years. A subsequent delay in diagnosing affected family members was demonstrated to cause potential harm. Non-index cases have been found to develop clinically relevant tumor manifestations during the lag times. Centralized care, monitoring of patients outcomes on a national level and thereby improving awareness of physicians treating MEN1 patients, will contribute to improved care. The second challenge relates to "phenocopies." Phenocopies refers to the 5-25% of clinically diagnosed patients with MEN1in whom no mutation can be found. Up to now, the clinical diagnosis of MEN1 is defined as the simultaneous presence of at least two of the three characteristic tumors (pituitary, parathyroids, or pancreatic islets). These clinically diagnosed patients undergo intensive follow up. Recent insights, however, challenge the validity of this clinical criterion. The most common mutation-negative MEN1 phenotype is the combination of primary hyperparathyroidism and a pituitary adenoma. This phenotype might also be caused by mutations in the
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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.