@article{b04e9d47f5484a6cb916dcfbc5869cf2,
title = "Genome wide methylation profiling of selected matched soft tissue sarcomas identifies methylation changes in metastatic and recurrent disease",
abstract = "In this study we used the Illumina Infinium Methylation array to investigate in a cohort of matched archival human tissue samples (n = 32) from 14 individuals with soft tissue sarcomas if genome-wide methylation changes occur during metastatic and recurrent (Met/Rec) disease. A range of sarcoma types were selected for this study: leiomyosarcoma (LMS), myxofibrosarcoma (MFS), rhabdomyosarcoma (RMS) and synovial sarcoma (SS). We identified differential methylation in all Met/Rec matched samples, demonstrating that epigenomic differences develop during the clonal evolution of sarcomas. Differentially methylated regions and genes were detected, not been previously implicated in sarcoma progression, including at PTPRN2 and DAXX in LMS, WT1-AS and TNXB in SS, VENTX and NTRK3 in pleomorphic RMS and MEST and the C14MC / miR-379/miR-656 in MFS. Our overall findings indicate the presence of objective epigenetic differences across primary and Met/Rec human tissue samples not previously reported.",
author = "Vargas, {Ana Cristina} and Gray, {Lesley Ann} and White, {Christine L.} and Maclean, {Fiona M.} and Peter Grimison and Ardakani, {Nima Mesbah} and Fiona Bonar and Algar, {Elizabeth M.} and Cheah, {Alison L.} and Peter Russell and Annabelle Mahar and Gill, {Anthony J.}",
note = "Funding Information: This study has been fully funded by the Australian and New Zealand Sarcoma Association (ANZSA) Research grant in collaboration with Hannah{\textquoteright}s Chance 2019. Grant awarded to ACV. The role of the grant is to provide financial support for consumables related to this study but the funders did not play any role in the study design, data collection, analysis, decision to publish or preparation of the manuscript. This work was partly supported by the Victorian Government{\textquoteright}s Operational Infrastructure Support Program. We thank Amy Sheen, who assisted with ethics approval. Andrew Townsend collaborated with database search. We also acknowledged all histopathologists of the Anatomical Pathology Department of Douglass Hanly Moir Pathology and Royal Prince Alfred Hospital involved in the diagnosis of these samples. Publisher Copyright: {\textcopyright} 2021, The Author(s).",
year = "2021",
month = dec,
doi = "10.1038/s41598-020-79648-6",
language = "English",
volume = "11",
journal = "Scientific Reports",
issn = "2045-2322",
publisher = "Nature Publishing Group",
number = "1",
}
