隆突性皮肤纤维肉瘤 (DFSP) 是一种罕见的软组织肉瘤，以其浸润性生长模式和复发潜力为特征。了解 DFSP 的分子特征对于增强其诊断、预后和治疗策略至关重要。该论文对 DFSP 进行了概述，强调了其分子理解的重要性。基因表达谱揭示了 DFSP 中独特的分子特征，突出了其异质性和潜在的治疗靶点。血小板衍生生长因子受体 (PDGFR) 和成纤维细胞生长因子受体 (FGFR) 信号通路在 DFSP 的进展和发展中发挥重要作用。这些通路的异常激活为治疗干预提供了机会。几种新兴疗法，即免疫疗法、免疫调节策略和免疫检查点抑制剂，为手术切除提供了有希望的替代方案。在 DFSP 管理中，联合策略，包括合理的联合治疗，旨在利用协同效应并克服耐药性。这篇文章包含了未来的观点和挑战，包括发现预后和预测生物标志物，以改善风险分层和治疗选择。临床前模型，例如患者来源的异种移植物 (PDX) 和基因工程小鼠模型，有助于研究 DFSP 的生物学并评估治疗干预措施。该手稿还涵盖了小分子抑制剂、临床试验、用于 DFSP 治疗的免疫检查点抑制剂、联合疗法、合理疗法和耐药机制，这些都是独特的，在最近的文献中没有广泛涵盖。另请参见图形摘要（图 1）。版权所有 © 2024 Singh 等人。

Dermatofibrosarcoma Protuberans (DFSP) is a rare soft tissue sarcoma distinguished by its infiltrative growth pattern and recurrence potential. Understanding the molecular characteristics of DFSP is essential for enhancing its diagnosis, prognosis, and treatment strategies. The paper provides an overview of DFSP, highlighting the significance of its molecular understanding. The gene expression profiling has uncovered unique molecular signatures in DFSP, highlighting its heterogeneity and potential therapeutic targets. The Platelet-Derived Growth Factor Receptors (PDGFRs) and Fibroblast Growth Factor Receptors (FGFRs) signaling pathways play essential roles in the progression and development of DFSP. The abnormal activation of these pathways presents opportunities for therapeutic interventions. Several emerging therapies, i.e., immunotherapies, immunomodulatory strategies, and immune checkpoint inhibitors, offer promising alternatives to surgical resection. In DFSP management, combination strategies, including rational combination therapies, aim to exploit the synergistic effects and overcome resistance. The article consisting future perspectives and challenges includes the discovery of prognostic and predictive biomarkers to improve risk stratification and treatment selection. Preclinical models, such as Patient-derived xenografts (PDX) and genetically engineered mouse models, help study the biology of DFSP and evaluate therapeutic interventions. The manuscript also covers small-molecule inhibitors, clinical trials, immune checkpoint inhibitors for DFSP treatment, combination therapies, rational therapies, and resistance mechanisms, which are unique and not broadly covered in recent pieces of literature. See also the graphical abstract(Fig. 1).Copyright © 2024 Singh et al.