Genomic Profiling Reveals the Variant Landscape of Sporadic Parathyroid Adenomas in Chinese Population
Authors' conclusion
Our study expanded the pathogenic variant spectrum of PA and indicated that KMT2D might be a novel candidate driver gene and be considered as a diagnostic biomarker for PA. Meanwhile, CDC73 mutations might be an early developmental event from PA to PC. The results provided insights into elucidating the pathogenesis of parathyroid tumorigenesis and a certain basis for clinical diagnosis and treatment.
Study context
- Population
- Chinese patients with sporadic parathyroid adenoma (PA)
- Participants
- 73 patients
- Outcome
- Somatic variants in PA
Methodological detailswhole-exome sequencing, matched tumor-constitutional DNA pairs, immunohistochemistry, ingenuity pathway analysis
- Whole-exome sequencing
- Matched tumor-constitutional DNA pairs
- Immunohistochemistry
- Ingenuity pathway analysis
Main finding
As reported in the abstract
- Genes with somatic variants
- 1549
- Average variants per tumor
- 69 (range, 13-2109; total, 9083)
- Novel recurrent somatic variants: KMT2D
- 15/73
- MUC4
- 14/73
- POTEH
- 13/73
- CD22
- 12/73
- HSPA2
- 12/73
- HCFC1
- 11/73
- MAGEA1
- 11/73
- SLC4A3
- 11/73
- Previously reported PA-related genes: MEN1
- 11/73
- CASR
- 6/73
- MTOR
- 4/73
- ASXL3
- 3/73
- FAT1
- 3/73
- ZFX
- 5/73
- EZH1
- 2/73
- POT1
- 2/73
- EZH2
- 1/73
Further findings
Somatic CDC73 mutations
- Patients with somatic CDC73 mutations, with aggressive phenotype similar to parathyroid carcinoma and decreased parafibromin expression
- 5
Pathway analysis of recurrent potential PA-associated driver variant genes
- Functional enrichment in Notch signaling pathway
Original publication
Genomic Profiling Reveals the Variant Landscape of Sporadic Parathyroid Adenomas in Chinese Population. J Clin Endocrinol Metab. Published 6 January 2023. doi:10.
Composed by AI from the published abstract and checked against it. How Briefs are made →