Patil Kalyani, Sher Gulab, Kuttikrishnan Shilpa, Moton Safwan, Alam Majid, Buddenkotte Joerg, Ahmad Aamir, Steinhoff Martin, Uddin Shahab
Translational Research Institute, Academic Health System, Hamad Medical Corporation, Doha 3050, Qatar.
College of Osteopathic Medicine, Nova Southeastern University, Fort Lauderdale, FL 33200, USA.
Semin Cell Dev Biol. 2024 Feb 15;154(Pt C):239-249. doi: 10.1016/j.semcdb.2022.09.015. Epub 2022 Oct 8.
Mycosis Fungoides (MF) and Sézary Syndrome (SS) belong to a wide spectrum of T cell lymphoproliferative disorders collectively termed cutaneous T cell lymphomas (CTCL). CTCLs represent an archetype of heterogeneous and dynamically variable lymphoproliferative neoplasms typified by distinct clinical, histological, immunophenotypic, and genetic features. Owing to its complex dynamics, the pathogenesis of CTCL remains elusive. However, in recent years, progress in CTCL classification combined with next-generation sequencing analyses has broadened the genetic and epigenetic spectrum of clearly defined CTCL entities such as MF and SS. Several large-scale genome studies have identified the polygenic nature of CTCL and unveiled an idiosyncratic mutational landscape involving genetic aberrations, epigenetic alterations, cell cycle dysregulation, apoptosis, and the constitutive activation of T cell/NF-κB/JAK-STAT signaling pathways. In this review, we summarize the evolving insights on how the intrinsic epigenetic events driven by dysregulated miRNAs, including the oncogenic and tumor-suppressive miRNAs, influence the pathogenesis of MF and SS. We also focus on the interplay between the JAK/STAT pathway and miRNAs in CTCL as well as the significance of the miRNA/STAT axis as a relevant pathogenetic mechanism underlying CTCL initiation and progression. Based on these biologic insights, the current status and recent progress on novel therapies with a strong biological rationale, including miRNA-targeted molecules and JAK/STAT-targeted therapy for CTCL management, are discussed.
蕈样肉芽肿(MF)和赛塞里综合征(SS)属于一大类T细胞淋巴增殖性疾病,统称为皮肤T细胞淋巴瘤(CTCL)。CTCL是异质性和动态可变淋巴增殖性肿瘤的典型代表,具有独特的临床、组织学、免疫表型和遗传学特征。由于其动态复杂性,CTCL的发病机制仍不清楚。然而,近年来,CTCL分类的进展与新一代测序分析相结合,拓宽了如MF和SS等明确界定的CTCL实体的遗传和表观遗传谱。几项大规模基因组研究已经确定了CTCL的多基因性质,并揭示了一个独特的突变格局,涉及基因畸变、表观遗传改变、细胞周期失调、细胞凋亡以及T细胞/NF-κB/JAK-STAT信号通路的组成性激活。在这篇综述中,我们总结了关于失调的微小RNA(miRNA)驱动的内在表观遗传事件如何影响MF和SS发病机制的不断演变的见解,这些miRNA包括致癌和抑癌miRNA。我们还关注CTCL中JAK/STAT通路与miRNA之间的相互作用,以及miRNA/STAT轴作为CTCL起始和进展潜在相关致病机制的意义。基于这些生物学见解,讨论了具有强大生物学理论依据的新型疗法的现状和最新进展,包括针对CTCL治疗的miRNA靶向分子和JAK/STAT靶向疗法。