Whole-exome Sequencing of Atypical Parathyroid Tumors Detects Novel and Common Genes Linked to Parathyroid Tumorigenesis
Authors' conclusion
APT does not appear to have a specific molecular signature but shares genomic alterations with both PA and PC. The incidence of CDC73 mutations is low, and it remains unclear whether these mutations are associated with a higher risk of recurrence. Our study confirms that PI3 K/AKT/mTOR and Wnt signaling represents the pivotal pathways in parathyroid tumorigenesis and also revealed mutations in key epigenetic modifier genes (BCOR, KDM2A, MBD4, and EZH2) involved in chromatin remodeling, DNA, and histone methylation.
Study context
- Population
- Atypical parathyroid tumors (atypical parathyroid tumor (APT))
- Participants
- 16 APTs
- Outcome
- Molecular landscape and deregulated pathways in APT
Methodological detailswhole-exome sequencing, tumor and matched peripheral blood DNA, Illumina HiSeq3000
- Whole-exome sequencing
- Tumor and matched peripheral blood DNA
- Illumina HiSeq3000
Main finding
As reported in the abstract
Nonsynonymous variants identified
192
Median number of protein-altering mutations
9
Mutated genes in the Cancer Gene Census list
17
Original publication
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