对选定的匹配软组织肉瘤进行全基因组甲基化谱分析，确定了转移和复发性疾病中的甲基化变化。
Genome wide methylation profiling of selected matched soft tissue sarcomas identifies methylation changes in metastatic and recurrent disease.
机构信息
Department of Anatomical Pathology, Douglass Hanly Moir Pathology, Macquarie Park, NSW, 2113, Australia.
Cancer Diagnosis and Pathology Group, Kolling Institute of Medical Research, Royal North Shore Hospital, St Leonards, NSW, 2065, Australia.
出版信息
Sci Rep. 2021 Jan 12;11(1):667. doi: 10.1038/s41598-020-79648-6.
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.
在这项研究中，我们使用 Illumina Infinium Methylation 阵列，对来自 14 名软组织肉瘤患者的配对存档人类组织样本（n=32）进行了研究，以确定在转移性和复发性（Met/Rec）疾病期间是否发生全基因组甲基化变化。选择了多种肉瘤类型进行本研究：平滑肌肉瘤（LMS）、黏液纤维肉瘤（MFS）、横纹肌肉瘤（RMS）和滑膜肉瘤（SS）。我们在所有的 Met/Rec 匹配样本中都发现了差异甲基化，表明表观遗传差异在肉瘤的克隆进化过程中发展。检测到差异甲基化区域和基因，这些区域和基因以前未被认为与肉瘤进展有关，包括 LMS 中的 PTPRN2 和 DAXX、SS 中的 WT1-AS 和 TNXB、多形性 RMS 中的 VENTX 和 NTRK3 以及 MFS 中的 MEST 和 C14MC/miR-379/miR-656。我们的总体研究结果表明，在以前未报道过的原发性和 Met/Rec 人类组织样本中存在客观的表观遗传差异。
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