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COL1A1–PDGFB Fusion Gene Detection Through Bulk RNA-Seq and Transcriptomic Features of Dermatofibrosarcoma Protuberans.
- Source :
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Dermatologic Surgery . 2023Supplement, Vol. 49, pS27-S33. 7p. - Publication Year :
- 2023
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Abstract
- Supplemental Digital Content is Available in the Text. BACKGROUND: Dermatofibrosarcoma protuberans (DFSP) is a cutaneous sarcoma with obscure origin and multidirectional differentiation. Application of RNA-Seq in the detection of COL1A1–PDGFB is still at early stages. OBJECTIVE: We aim to test the efficacy of fusion gene detection using bulk RNA-Seq in DFSPs, explore altered molecular pathways and biological processes for evidences of tumor origin and cell identity shift. MATERIALS AND METHODS: Dermatofibrosarcoma protuberans and normal dermis samples were acquired for RNA-Seq. Fusion gene detection was performed using STAR-Fusion. RNA-Seq 2G yielded differentially expressed genes. Altered pathways, key gene ontology terms, and similar cell/tissue types were identified with gene set enrichment analysis. xCell was used for cell types enrichment analysis. RESULTS: 28/30 CD34(+) cases were positive for COL1A1–PDGFB. 406 upregulated and 543 downregulated genes were determined. Among the top 10 upregulated genes, 6 had neural distribution, function, or disease correlation. The upregulated genes were related to synapse, trans-synaptic signaling, neural development, and extracellular matrix. Similarities between DFSP and nervous system components were highlighted, with fibroblast cellular abundancy increased during xCell analysis. CONCLUSION: Bulk RNA-Seq provided with high detection rate of COL1A1-PDGFB. Dermatofibrosarcoma protuberans showed fibroblastic activity and neural features, which validated DFSP's fibroblast origin and tendency of neural differentiation. [ABSTRACT FROM AUTHOR]
Details
- Language :
- English
- ISSN :
- 10760512
- Volume :
- 49
- Database :
- Academic Search Index
- Journal :
- Dermatologic Surgery
- Publication Type :
- Academic Journal
- Accession number :
- 163424864
- Full Text :
- https://doi.org/10.1097/DSS.0000000000003771