Novel potential causative genes in carotid paragangliomas

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 these tumors is not fully elucidated, and the molecular mechanisms underlying CPGL pathogenesis remain unclear. We analyzed exome and transcriptome data derived from high-throughput sequencing of carotid paraganglioma samples. Using the xseq model, we evaluated the effects of potential somatic mutations on gene expression profiles. Novel potentially causative genes, were identified in carotid paragangliomas.