Journal article
The Genomic Landscape of Sporadic Prolactinomas
SMC De Sousa, PPS Wang, S Santoreneos, A Shen, CJ Yates, M Babic, L Eshraghi, J Feng, B Koszyca, S Roberts-Thomson, AW Schreiber, DJ Torpy, HS Scott
Endocrine Pathology | HUMANA PRESS INC | Published : 2019
Abstract
Somatic GNAS and USP8 mutations have been implicated in sporadic somatotrophinomas and corticotrophinomas, respectively. However, no genes are known to be recurrently mutated in sporadic prolactinomas. The prevalence of copy number variants (CNV), which is emerging as a mechanism of tumorigenesis in sporadic pituitary adenomas in general, is also unclear in prolactinomas. To characterize the genetic events underpinning sporadic prolactinomas, we performed whole exome sequencing of paired tumor and germline DNA from 12 prolactinoma patients. We observed recurrent large-scale CNV, most commonly in the form of copy number gains. We also identified sequence variants of interest in 15 genes. This..
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Awarded by Royal Adelaide Hospital
Funding Acknowledgements
SMCD is supported by an A.R. Clarkson Scholarship from the Royal Adelaide Hospital. This study was produced with support from a Royal Adelaide Hospital Health Services Charitable Gifts Board grant, and with the financial and other support of the Cancer Council SA's Beat Cancer Project on behalf of its donors and the State Government of South Australia through the Department of Health.