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Purpose: Myxoid liposarcoma (MLS) is the most common type of liposarcoma in humans. Tumor with round cell component shows poor clinical prognosis. Currently, specific target therapies for this tumor type have not been developed. We performed next-generation sequencing (NGS) analysis of paired samples to investigate genomic alteration in MLS with two histologic features. Methods: Whole exome sequencing (WES) and transcriptome sequencing data were acquired from formalin-fixed paraffin-embedded samples of 10 patients. We performed differential gene expression analysis and pathway analysis between the conventional myxoid liposarcoma area lesion and that of round cell component using transcriptome sequencing data. In addition, we analyzed characteristics of mutational signatures in the two histologic features of MLS using WES data. Results: CD37 showed the most significant expression in round cell components of myxoid liposarcoma (RMLS) compared to conventional MLS. The immune response pathway was significantly enriched in the conventional lesion. The pathway involving cell mitotic and metabolic processes were represented considerably in with RMLS. FUS-DDIT3/EWSR1-DDIT3 fusion oncogene was detected in these RMLS samples more frequently than MLS. Some patients showed mutational signatures related to oxidative stress. Conclusion: The expression of CD37 was highly expressed in almost all the RMLS. We identified smoking profile signature characteristics in these two samples, but no significant mutational difference was placed between the RMLS and MLS samples. In RMLS, the fusion oncogene and other overexpression oncogenes that occur in the cell cycle affect lipid metabolism due to oxidative stress such as ROS. Finally, we observed CD37 expression by performing IHC only in RMLS samples. The above data suggest that CD37 and other markers can be a promising biomarker target in myxoid liposarcoma with unfavorable histological features. Citation Format: Jee Hoon Chae, Sun il Kim, Do Hee Kim, Sangkyum Kim, Junjeong Choi. Comprehensive analysis of genomic alteration in histologic components of myxoid liposarcoma [abstract]. In: Proceedings of the American Association for Cancer Research Annual Meeting 2022; 2022 Apr 8-13. Philadelphia (PA): AACR; Cancer Res 2022;82(12_Suppl):Abstract nr 5769. |
