Singh Harpreet, Choudhary Heena Bholaram, Mandlik Deepa Satish, Magre Manoj Subhash, Mohanto Sourav, Ahmed Mohammed Gulzar, Singh Bhuvnesh Kumar, Mishra Arun Kumar, Kumar Arvind, Mishra Amrita, Venkatachalam T, Chopra Hitesh
School of Pharmaceutical Sciences, IFTM University, Moradabad, Uttar Pradesh, 244102, India.
Department of Pharmacology, BVDU, Poona College of Pharmacy, Pune, 411038, Maharashtra, India.
EXCLI J. 2024 May 14;23:727-762. doi: 10.17179/excli2024-7164. eCollection 2024.
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).
隆突性皮肤纤维肉瘤(DFSP)是一种罕见的软组织肉瘤,其特征为浸润性生长模式和复发潜能。了解DFSP的分子特征对于改进其诊断、预后评估及治疗策略至关重要。本文概述了DFSP,强调了对其分子层面理解的重要性。基因表达谱分析揭示了DFSP中独特的分子特征,凸显了其异质性及潜在的治疗靶点。血小板衍生生长因子受体(PDGFRs)和成纤维细胞生长因子受体(FGFRs)信号通路在DFSP的进展和发展中起着重要作用。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前景的替代方案。在DFSP的治疗中,联合策略,包括合理的联合治疗,旨在发挥协同效应并克服耐药性。包含未来展望和挑战的这篇文章还提到了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,如患者来源的异种移植模型(PDX)和基因工程小鼠模型,有助于研究DFSP的生物学特性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、合理疗法及耐药机制,这些内容独特且近期文献中未广泛涉及。另见图1的图形摘要。