Phyo Zaw H, Shanbhag Satish, Rozati Sima
Johns Hopkins University School of Medicine, Baltimore, MD, United States.
Departments of Oncology and Medicine, Johns Hopkins University, Baltimore, MD, United States.
Front Oncol. 2020 May 12;10:765. doi: 10.3389/fonc.2020.00765. eCollection 2020.
Cutaneous T cell lymphomas (CTCL) comprise of a heterogeneous group of non-Hodgkin lymphomas derived from skin-homing T cells. Variation in clinical presentation and lack of definitive molecular markers make diagnosis especially challenging. The biology of CTCL remains elusive and clear links between genetic aberrations and epigenetic modifications that would result in clonal T cell expansion have not yet been identified. Nevertheless, in recent years, next generation sequencing (NGS) has enabled a much deeper understanding of the genomic landscape of CTCL by uncovering aberrant genetic pathways and epigenetic dysregulations. Additionally, single cell profiling is rapidly advancing our understanding of patients-specific tumor landscape and its interaction with the surrounding microenvironment. These studies have paved the road for future investigations that will explore the functional relevance of genetic alterations in the progression of disease. The ultimate goal of elucidating the pathogenesis of CTCL is to establish effective therapeutic targets with more durable clinical response and treat relapsing and refractory CTCL.
皮肤T细胞淋巴瘤(CTCL)由一组异质性的非霍奇金淋巴瘤组成,这些淋巴瘤起源于归巢至皮肤的T细胞。临床表现的差异以及缺乏明确的分子标志物使得诊断极具挑战性。CTCL的生物学特性仍不清楚,尚未确定导致克隆性T细胞扩增的基因畸变与表观遗传修饰之间的明确联系。然而,近年来,新一代测序(NGS)通过揭示异常的遗传途径和表观遗传失调,使人们对CTCL的基因组格局有了更深入的了解。此外,单细胞分析正在迅速推进我们对患者特异性肿瘤格局及其与周围微环境相互作用的理解。这些研究为未来探索疾病进展中基因改变的功能相关性的研究铺平了道路。阐明CTCL发病机制的最终目标是建立具有更持久临床反应的有效治疗靶点,并治疗复发和难治性CTCL。