ArticleThe Journal of clinical endocrinology and metabolism2012
Identification of somatic mutations in parathyroid tumors using whole-exome sequencing.
Article in The Journal of clinical endocrinology and metabolism, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 82 papers.
What it found
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Who cites it
82 citing papers in PubMed, 148 citations in OpenAlex.
- Genome near-haploidization in CDC73-wildtype parathyroid tumors.Scientific reports · 2026Article
- Molecular Pathophysiology of Parathyroid Tumorigenesis-The Lesson from a Rare Disease: The "MEN1 Model".International journal of molecular sciences · 2024Review
- KMT2A and chronic inflammation as potential drivers of sporadic parathyroid adenoma.Clinical and translational medicine · 2024Article
- Syndromic MEN1 parathyroid adenomas consist of both subclonal nodules and clonally independent tumors.Virchows Archiv : an international journal of pathology · 2024Article
- Molecular Genetic Aspects of Sporadic Multiglandular Primary Hyperparathyroidism.Physiological research · 2023Review
- Germline- and Somatic-Inactivating FLCN Variants in Parathyroid Cancer and Atypical Parathyroid Tumors.The Journal of clinical endocrinology and metabolism · 2023Article
- Molecular and Clinical Spectrum of Primary Hyperparathyroidism.Endocrine reviews · 2023Article
- Genomic Profiling Reveals the Variant Landscape of Sporadic Parathyroid Adenomas in Chinese Population.The Journal of clinical endocrinology and metabolism · 2023Article
- Specific genetic aberrations of parathyroid in Chinese patients with tertiary hyperparathyroidism using whole-exome sequencing.Frontiers in endocrinology · 2023Article
- Identification of 4 New Loci Associated With Primary Hyperparathyroidism (PHPT) and a Polygenic Risk Score for PHPT.The Journal of clinical endocrinology and metabolism · 2022Article
- Ultra-deep sequencing validates safety of CRISPR/Cas9 genome editing in human hematopoietic stem and progenitor cells.Nature communications · 2022Article
- Histone Modification on Parathyroid Tumors: A Review of Epigenetics.International journal of molecular sciences · 2022Review
- Clinical characteristics and identification of a novel TGFB1 variant in three unrelated Chinese families with Camurati-Engelmann disease.Molecular genetics & genomic medicine · 2022Article
- Overview of the 2022 WHO Classification of Parathyroid Tumors.Endocrine pathology · 2022Review
- Genetic and Epigenetic Alterations in Parathyroid Neoplasms.Iranian journal of pathology · 2022Review
- Germline Mutations Related to Primary Hyperparathyroidism Identified by Next-Generation Sequencing.Frontiers in endocrinology · 2022Review
- Genetics and Epigenetics of Parathyroid Carcinoma.Frontiers in endocrinology · 2022Review
- Analyzing Genetic Differences Between Sporadic Primary and Secondary/Tertiary Hyperparathyroidism by Targeted Next-Generation Panel Sequencing.Endocrine pathology · 2021Article
- Parathyroid Tumors: Molecular Signatures.International journal of molecular sciences · 2021Review
- [The clinical practice guidelines for primary hyperparathyroidism, short version].Problemy endokrinologii · 2021Review
22 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
7 authors at 2 institutions in 2 countries.
Funding
Abstract
contextThe underlying molecular alterations causing sporadic parathyroid adenomas that drive primary hyperparathyroidism have not been thoroughly defined.
objectiveThe aim of the study was to investigate the occurrence of somatic mutations driving tumor formation and progression in sporadic parathyroid adenoma using whole-exome sequencing.
designEight matched tumor-constitutional DNA pairs from patients with sporadic parathyroid adenomas underwent whole-exome capture and high-throughput sequencing. Selected genes were analyzed for mutations in an additional 185 parathyroid adenomas.
resultsFour of eight tumors displayed a frame shift deletion or nonsense mutation in MEN1, which was accompanied by loss of heterozygosity of the remaining wild-type allele. No other mutated genes were shared among the eight tumors. One tumor harbored a Y641N mutation of the histone methyltransferase EZH2 gene, previously linked to myeloid and lymphoid malignancy formation. Targeted sequencing in the additional 185 parathyroid adenomas revealed a high rate of MEN1 mutations (35%). Furthermore, this targeted sequencing identified an additional parathyroid adenoma that contained the identical, somatic EZH2 mutation that was found by exome sequencing.
conclusionThis study confirms the frequent role of the loss of heterozygosity of chromosome 11 and MEN1 gene alterations in sporadic parathyroid adenomas and implicates a previously unassociated methyltransferase gene, EZH2, in endocrine tumorigenesis.
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