Department of Pathology and Microbiology, University of Nebraska Medical Center, Omaha, NE, 68198-6842, USA.
Department of Internal Medicine, Division of Oncology & Hematology, University of Nebraska Medical Center, Omaha, NE, 68198-6842, USA.
Curr Hematol Malig Rep. 2018 Aug;13(4):318-328. doi: 10.1007/s11899-018-0460-z.
Peripheral T cell lymphoma (PTCL) is a heterogeneous group of lymphoproliferative neoplasms, with at least 29 distinct entities described in current WHO classification. Using present diagnostic approaches, more than a third of PTCL cases cannot be classified, hence designated as PTCL-not otherwise specified (PTCL-NOS). Herein, we summarize the current genomic findings and their role in the molecular pathogenesis in different PTCL entities.
Gene expression profiling (GEP) studies have identified distinct molecular signatures for accurate diagnosis and elucidated oncogenic pathways enriched in major PTCL entities. Furthermore, genomic characterization has identified recurrent somatic mutations and potential therapeutic targets. Further efforts are underway to develop genetically faithful murine models. GEP studies have identified molecular subgroups of PTCL, characterized by distinct genetic and epigenetic alterations. Understanding the molecular mechanisms of T cell lymphomagenesis using in vivo model will help to reveal novel therapeutic targets.
外周 T 细胞淋巴瘤（PTCL）是一组异质性的淋巴增殖性肿瘤，目前世界卫生组织（WHO）分类中至少描述了 29 种不同的实体。采用目前的诊断方法，超过三分之一的 PTCL 病例无法分类，因此被指定为未特指的外周 T 细胞淋巴瘤（PTCL-NOS）。本文总结了不同 PTCL 实体中目前的基因组发现及其在分子发病机制中的作用。
基因表达谱（GEP）研究为准确诊断确定了独特的分子特征，并阐明了主要 PTCL 实体中富含的致癌途径。此外，基因组特征分析确定了复发性体细胞突变和潜在的治疗靶点。目前正在努力开发遗传上忠实的鼠模型。GEP 研究已经确定了 PTCL 的分子亚群，其特征是具有不同的遗传和表观遗传改变。使用体内模型来理解 T 细胞淋巴瘤发生的分子机制将有助于揭示新的治疗靶点。
