Cellular and molecular landscape of primary dermatofibrosarcoma protuberans: Insights from single-cell RNA sequencing analysis

IF 3.5 3区 医学 Q1 DERMATOLOGY
Rui Peng, Yingyi Li, Yumei Gao, Dian Chen, Zhenghui Li, Yi Zhao
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引用次数: 0

Abstract

Dermatofibrosarcoma protuberans (DFSP) is a rare cutaneous sarcoma characterized by the COL1A1-PDGFB fusion gene. This study utilized single-cell RNA sequencing to dissect the cellular and molecular landscape of primary DFSP. Distinct DFSP cell clusters, exhibiting fibroblast-like traits, revealed variations in pathways associated with proliferation, inflammation and metabolism. Differential gene expression analysis during the differentiation from tumour stem cells to DFSP cells unveiled SMOC2, DCN and TGFBR3 as potential regulators of tumour invasion and immune infiltration through VEGF/TGF-β signalling modulation. Cellular communication analysis highlighted interactions within DFSP cell clusters and with endothelial cells, implicating molecules such as NAMPT, ANGPT2 and PTN in pathogenesis and treatment resistance. These findings offer insights into DFSP intratumour heterogeneity, elucidate molecular mechanisms underlying tumour behaviour, and suggest potential therapeutic targets.

原发性原发性皮纤维肉瘤的细胞和分子图谱:单细胞 RNA 测序分析的启示
原发性皮肤纤维肉瘤(DFSP)是一种罕见的皮肤肉瘤,其特征是COL1A1-PDGFB融合基因。本研究利用单细胞 RNA 测序技术剖析了原发性 DFSP 的细胞和分子图谱。不同的DFSP细胞群表现出成纤维细胞样特征,揭示了与增殖、炎症和新陈代谢相关的通路的变化。从肿瘤干细胞到DFSP细胞分化过程中的差异基因表达分析揭示了SMOC2、DCN和TGFBR3是通过VEGF/TGF-β信号调节肿瘤侵袭和免疫浸润的潜在调控因子。细胞通讯分析突显了 DFSP 细胞集群内部以及与内皮细胞之间的相互作用,表明 NAMPT、ANGPT2 和 PTN 等分子与发病机制和耐药性有关。这些发现深入揭示了 DFSP 肿瘤内的异质性,阐明了肿瘤行为的分子机制,并提出了潜在的治疗靶点。
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来源期刊
Experimental Dermatology
Experimental Dermatology 医学-皮肤病学
CiteScore
6.70
自引率
5.60%
发文量
201
审稿时长
2 months
期刊介绍: Experimental Dermatology provides a vehicle for the rapid publication of innovative and definitive reports, letters to the editor and review articles covering all aspects of experimental dermatology. Preference is given to papers of immediate importance to other investigators, either by virtue of their new methodology, experimental data or new ideas. The essential criteria for publication are clarity, experimental soundness and novelty. Letters to the editor related to published reports may also be accepted, provided that they are short and scientifically relevant to the reports mentioned, in order to provide a continuing forum for discussion. Review articles represent a state-of-the-art overview and are invited by the editors.
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