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Updated: Jan 26, 2026
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Published on: May 6, 2018
Novel potential causative genes in carotid paragangliomas
Anastasiya V Snezhkina1, Elena N Lukyanova1, Andrew R Zaretsky1
1Engelhardt Institute of Molecular Biology, Russian Academy of Sciences, Moscow, Russia.
Background:
Carotid paragangliomas (CPGLs) are rare neuroendocrine tumors that arise from the paraganglion at the bifurcation of the carotid artery and are responsible for approximately 65% of all head and neck paragangliomas. CPGLs can occur sporadically or along with different hereditary tumor syndromes. Approximately 30 genes are known to be associated with CPGLs. However, the genetic basis behind the development of these tumors is not fully elucidated, and the molecular mechanisms underlying CPGL pathogenesis remain unclear.
Methods:
Whole exome and transcriptome high-throughput sequencing of CPGLs was performed on an Illumina platform. Exome libraries were prepared using a Nextera Rapid Capture Exome Kit (Illumina) and were sequenced under 75 bp paired-end model. For cDNA library preparation, a TruSeq Stranded Total RNA Library Prep Kit with Ribo-Zero Gold (Illumina) was used; transcriptome sequencing was carried out with 100 bp paired-end read length. Obtained data were analyzed using xseq which estimates the influence of mutations on gene expression profiles allowing to identify potential causative genes.
Results:
We identified a total of 16 candidate genes (MYH15, CSP1, MYH3, PTGES3L, CSGALNACT2, NMD3, IFI44, GMCL1, LSP1, PPFIBP2, RBL2, MAGED1, CNIH3, STRA6, SLC6A13, and ATM) whose variants potentially influence their expression (cis-effect). The strongest cis-effect of loss-of-function variants was found in MYH15, CSP1, and MYH3, and several likely pathogenic variants in these genes associated with CPGLs were predicted.
Conclusions:
Using the xseq probabilistic model, three novel potential causative genes, namely MYH15, CSP1, and MYH3, were identified in carotid paragangliomas.
Insights
Researchers identified three novel genes, MYH15, CSP1, and MYH3, as potential causes of carotid paragangliomas (CPGLs). This discovery advances understanding of these rare neuroendocrine tumors.
Area of Science:
- Oncology
- Genetics
- Neuroscience
Background:
- Carotid paragangliomas (CPGLs) are rare neuroendocrine tumors originating at the carotid artery bifurcation.
- CPGLs account for a significant portion of head and neck paragangliomas and can be sporadic or hereditary.
- The genetic underpinnings and molecular pathogenesis of CPGLs are not fully understood, despite associations with approximately 30 genes.
Purpose of the Study:
- To identify novel causative genes in carotid paragangliomas.
- To elucidate the molecular mechanisms underlying CPGL development.
- To investigate the influence of genetic variants on gene expression in CPGLs.
Main Methods:
- High-throughput whole exome and transcriptome sequencing of CPGLs using Illumina platforms.
- Analysis of sequencing data with xseq to identify genes with mutations influencing expression (cis-effect).
- Utilized Nextera Rapid Capture Exome Kit and TruSeq Stranded Total RNA Library Prep Kit.
Main Results:
- Identified 16 candidate genes with variants potentially affecting gene expression.
- Observed the strongest cis-effect of loss-of-function variants in MYH15, CSP1, and MYH3.
- Predicted several likely pathogenic variants in these genes associated with CPGLs.
Conclusions:
- Three novel potential causative genes, MYH15, CSP1, and MYH3, were identified in carotid paragangliomas.
- These findings contribute to a better understanding of CPGL pathogenesis.
- The study highlights the utility of integrated exome and transcriptome sequencing for identifying novel cancer-related genes.
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