Exome Sequencing of Sporadic GH-Secreting Pituitary Adenomas
Journal Title: Biomedical Journal of Scientific & Technical Research (BJSTR) - Year 2019, Vol 15, Issue 1
Abstract
Growth hormone pituitary adenomas (GHomas) are the second most common of pituitary tumors that hypersecrete prolactin. In clinically, the treatment and diagnosis of GHomas are limited, and the earlier and more frequent recurrences were demonstrated in invasive pituitary adenomasa. The identification of the association of genetic mutation and GHomas progression can provide significant interest to patients with GHomas. In recent years, studies of GHomas focused on the identification of genetic mutation in sporadic pituitary adenomas. Previously, a study has shown DPCR1, EGFL7, the PRDM family and LRRC5 in pituitary adenomas are probably functional in modifiers of tumorigenesis, development of oncocytic change and invasive tumor phenotype. The detection of genetic mutations still needs further study. Whole-exome sequencing, for spectrum of genetic alterations at present study, was performed on 7 sporadic GHomas DNA and corresponding blood samples. In total, 293 variants were predicted to be functionally damaged in 7 tumor samples (median 41 mutations/sample; range: 40-73).4 candidate driver mutations, including RBM43, KRTAP4-9, GNGT2, and CENPW, were identified and functional significance analyses suggest that GNGT2, but not the other three genes, may contribute to the pathogenesis of GHomas. Lastly, gene ontology and pathway analyses identified mutations in 31 genes that were associated with metabolic pathways (22 genes), calcium signaling (7 genes) and adipocytokine signaling pathways (5 genes), respectively, implicating these pathways in the pathogenesis of GHomas. In conclusion, several candidate somatic mutations and changes in copy numbers for GHomas were identified. (The results showed no recurrence of mutations in the tumors studied but a low number of mutations, thereby highlighting their benign nature). Further studies on a larger cohort of TSHomas, along with the use of epigenetic and transcriptomic approaches, may reveal the underlying genetic lesions.Conclusion: Our results demonstrated no recurrence of mutations in the tumors studied. Interestingly, the data suggested that metabolic, calcium signaling or adipocytokine signaling pathways might be involved in tumor pathogenesis, suggesting further studies on a larger cohort of tumor tissues. Further, epigenetic approaches may be beneficial in revealing the etiology of sporadic GH-secreting pituitary adenomas.
Authors and Affiliations
Changpeng Wu, Xiejun Zhang, Yuansen Shu, Qian Zhou, Weiping Li
Keywords
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- EP ID EP586011
- DOI 10.26717/BJSTR.2019.15.002641
- Views 196
- Downloads 0
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