AUTHOR=Zhang Xiao , Sun Di , Zheng Haiyan , Rao Yamin , Deng Yuqi , Liang Xiao , chen Jun , Yang Jun 

TITLE=Comprehensive analysis of transcriptome characteristics and identification of TLK2 as a potential biomarker in dermatofibrosarcoma protuberans

JOURNAL=Frontiers in Genetics

VOLUME=13

YEAR=2022

URL=https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2022.926282

DOI=10.3389/fgene.2022.926282

ISSN=1664-8021

ABSTRACT=<p><bold>Background:</bold> Dermatofibrosarcoma protuberans (DFSP) is a rare cutaneous sarcoma characterized by local invasion and recurrence. RNA sequencing (RNA-seq) allows the qualification of cellular RNA populations and provides information on the transcriptional state. However, few studies have comprehensively analyzed DFSP transcriptional data.</p><p><bold>Methods:</bold> Fourteen DFSP samples with paired non-neoplastic soft tissue from Chinese patients undergoing Mohs micrographic surgery were used for RNA-seq analysis. Differential expression analysis and enrichment analysis for RNA-seq data were performed to identify fusion genes, biomarkers, and microenvironment characteristics of DFSP.</p><p><bold>Results:</bold> This study systemically describes the transcriptomic characteristics of DFSP. First, we performed gene fusion analysis and identified a novel <italic>FBN1-CSAD</italic> fusion event in a DFSP patient with fibrosarcomatous transformation. Then, we identified <italic>TLK2</italic> as a biomarker for DFSP based on functional enrichment analysis, and validated its accuracy for diagnosing DFSP by immunohistochemical staining and joint analysis with public data. Finally, microenvironment analysis described the infiltration characteristics of immune and stromal cells in DFSP.</p><p><bold>Conclusion:</bold> This study demonstrates that RNA-seq can serve as a promising strategy for exploring molecular mechanisms in DFSP. Our results provide new insights into accurate diagnosis and therapeutic targets of DFSP.</p>