Clinicopathologic and molecular analysis of aBCOR–CCNB3undifferentiated sarcoma of the kidney reveals significant epigenetic alterations

• DOI: 10.1101/mcs.a005942
• Publication Date: 2021-11-24T17:40:16Z
• Authors: Tamara J. Hagoel; Eduardo Cortes Gomez; Ajay Gupta; Clare J. Twist; Rafal Kozielski; Jeffrey C. Martin; Lingui Gao; Joseph Kuechle; Prashant K. Singh; Miranda Lynch; Lei Wei; Song Liu; Jianmin Wang; Joyce E. Ohm
• Keywords: Epigenomics; DNMT3B; DNMT1

Undifferentiated soft tissue sarcomas (UDSTSs) are a group of mesenchymal tumors that remain diagnostic challenge because their morphologic heterogeneity and unclear histologic origin (Peters et al., Mod Pathol 28: 575 [2015]). In this case report, we present the first multiomics molecular signature for BCOR–CCNB3 sarcoma (BCS) includes mutation analysis, gene expression, DNA methylation, micro RNA (miRNA) expression. We identify paucity additional mutations in tumor detail there is significant dysregulation expression epigenetic remodeling agents including key members PRC, Sin3A/3b, NuRD, NcoR/SMRT complexes methyltransferases DNMT1, DNMT3a, DNMT3b. This accompanied by methylation changes multiple miRNAs with known links to tumorigenesis. study significantly increases our understanding BCOR effects on fusion-positive undifferentiated at both genomic epigenomic level suggests as better-tailored more refined treatment algorithms continue evolve, modifying should be further evaluated efficacy against these tumors.