ArticleEndocrine2000
A newly recognized germline mutation of MEN1 gene identified in a patient with parathyroid adenoma and carcinoma.
Article in Endocrine, 2000. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 43 citations in OpenAlex.
- Childhood Multiple Endocrine Neoplasia (MEN) Syndromes: Genetics, Clinical Heterogeneity and Modifying Genes.Journal of clinical medicine · 2024Review
- Clinical and molecular characterization of parathyroid carcinoma in multiple endocrine neoplasia type 1.Endocrine connections · 2023Article
- [Casuistic cases of parathyroid carcinoma with a verified mutation in theProblemy endokrinologii · 2023Article
- Prevalence of Parathyroid Carcinoma and Atypical Parathyroid Neoplasms in 153 Patients With Multiple Endocrine Neoplasia Type 1: Case Series and Literature Review.Frontiers in endocrinology · 2020Review
- Phenotypes Associated With MEN1 Syndrome: A Focus on Genotype-Phenotype Correlations.Frontiers in endocrinology · 2020Review
- Molecular genetics of syndromic and non-syndromic forms of parathyroid carcinoma.Human mutation · 2017Review
- Article
- Parathyroid cancer.Seminars in oncology · 2010Review
- Parathyroid carcinoma in multiple endocrine neoplasia type 1 (MEN1) syndrome: two case reports of an unrecognised entity.Journal of endocrinological investigation · 2007Article
- A novel germline mutation of MEN 1 gene in a patient with acromegaly and multiple endocrine tumors.Journal of endocrinological investigation · 2004Article
- The MEN1 gene and associated diseases: an update.Endocrine pathology · 2001Review
Corrections and comments
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We report on a patient with primary hyperparathyroidism, owing to the concurrence of parathyroid adenoma with carcinoma, who had a newly recognized germline mutation of the multiple endocrine neoplasia type 1 gene (MEN1 gene). The patient underwent total parathyroidectomy, and histological examination revealed parathyroid carcinoma and multiple adenoma of the other three glands. Genetic analysis revealed a newly recognized heterozygous germline mutation (842delC, exon 4) of the MEN1 gene. Both imaging studies and laboratory data showed no evidence of MEN1 in the patient. Four family members--three sisters and one daughter--had neither clinical features of MEN1 nor genetic evidence of the MEN1 gene. This is the first report of a germline mutation of the MEN1 gene found in a patient who exhibited the concurrence of parathyroid adenoma with carcinoma, suggesting that long-term hyperactivity of the parathyroids may result in the formation of carcinoma.
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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.