Journal article

The Genomic Landscape of Sporadic Prolactinomas

Sunita MC De Sousa, Paui PS Wang, Stephen Santoreneos, Angeline Shen, Christopher J Yates, Milena Babic, Leila Eshraghi, Jinghua Feng, Barbara Koszyca, Samuel Roberts-Thomson, Andreas W Schreiber, David J Torpy, Hamish S Scott

Endocrine Pathology | HUMANA PRESS INC | Published : 2019


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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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.