ArticleJournal of the Endocrine Society2019
Comprehensive Genomic Characterization of Parathyroid Cancer Identifies Novel Candidate Driver Mutations and Core Pathways.
Article in Journal of the Endocrine Society, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 41 papers.
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Who cites it
41 citing papers in PubMed, 59 citations in OpenAlex.
- Mutational patterns in a large cohort of parathyroid carcinomas.Journal of endocrinological investigation · 2026Article
- Genome near-haploidization in CDC73-wildtype parathyroid tumors.Scientific reports · 2026Article
- PIEZO1-mediated mechanosensation links aging to bladder dysfunction.bioRxiv : the preprint server for biology · 2026Article
- Ultra-rare functional variants reveal early-onset breast cancer risk genes and pathways in the UK Biobank and All of Us Research Program.American journal of human genetics · 2026Article
- Genome-wide DNA methylation profiling reveals diagnostic markers in parathyroid tumours.Journal of endocrinological investigation · 2026Article
- Parathyroid carcinoma: epidemiology and genetics.Endocrine oncology (Bristol, England) · 2026Review
- Diagnosing the silent: the molecular landscape of non-functional parathyroid carcinoma.Virchows Archiv : an international journal of pathology · 2025Review
- [Genetic profiling of parathyroid tumours: lifting the veil of mystery].Problemy endokrinologii · 2025Review
- Genotype-Phenotype Correlations in the Hyperparathyroidism-Jaw Tumor Syndrome.The Journal of clinical endocrinology and metabolism · 2025Review
- A Comparative Genomic Analysis of Parathyroid Adenomas and Carcinomas Harboring Heterozygous Germline CDC73 Mutations.The Journal of clinical endocrinology and metabolism · 2025Article
- Article
- Efficacy of surufatinib in the treatment of advanced parathyroid carcinoma: A case report.Heliyon · 2024Article
- 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
- Evolutionary Action-Machine Learning Model Identifies Candidate Genes Associated With Early-Onset Coronary Artery Disease.Journal of the American Heart Association · 2023Article
- Parathyroid carcinoma: molecular therapeutic targets.Endocrine · 2023Review
- Challenges in the Diagnosis of Parathyroid Cancer: Unraveling the Diagnostic Maze.Reports (MDPI) · 2023Article
- Targeted therapy of advanced parathyroid carcinoma guided by genomic and transcriptomic profiling.Molecular oncology · 2023Article
- Functional variants identify sex-specific genes and pathways in Alzheimer's Disease.Nature communications · 2023Article
- Genomic and transcriptomic profiling reveal molecular characteristics of parathyroid carcinoma.Experimental & molecular medicine · 2023Article
Corrections and comments
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Authors and funding
15 authors at 3 institutions in 1 country.
Funding
Abstract
contextElucidating the genomic landscape of sporadic parathyroid carcinoma (PC) has been limited by low tumor incidence.
objectiveIdentify driver mutations of sporadic PC and potential actionable pathways.
methodsPatients undergoing surgical resection for sporadic PC between 1980 and 2016 at MD Anderson Cancer Center were identified. Patients with sporadic PC according to World Health Organization diagnostic criteria and with available formalin-fixed, paraffin-embedded (FFPE) PC tumor tissue were included and their clinical data analyzed to assess extent of disease. Patients with parathyroid tumors of uncertain malignancy or atypical parathyroid neoplasms were excluded. Thirty-one patients meeting diagnostic criteria had available tissue for analysis. FFPE PC tumors were subjected to DNA extraction and next-generation whole-exome sequencing. All variant calls are single-algorithm only. Twenty-nine samples passed quality assurance after DNA extraction.
main outcome measuresSomatic or private germline mutations present in sporadic PC and identification of pathways involved in tumorigenesis.
resultsWe identified 35 genes with considerable mutational load; only eight genes were previously identified in other PC cohorts. These genes mediate critical processes, including chromosome organization, DNA repair, and cell cycle regulations. Gene mutations involved in MAPK signaling and immune response are also heavily implicated. These findings are limited by inherent molecular artifacts in FFPE tissue analysis and the absence of matched germline DNA. Additionally, variant calls are only single algorithm and may include false-positive/negative calls.
conclusionWe identified 33 candidate driver genes of sporadic PC, in addition to previously known driver genes CDC73 and MEN1.
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