Zhang Yumeng, Lee Dasom, Brimer Thomas, Hussaini Mohammad, Sokol Lubomir
Department of Internal Medicine, University of South Florida, Tampa, FL, United States.
Department of Hematopathology, H. Lee Moffitt Cancer Center and Research Institute, Tampa, FL, United States.
Front Oncol. 2020 Jun 19;10:898. doi: 10.3389/fonc.2020.00898. eCollection 2020.
Peripheral T-cell lymphoma (PTCL) is a rare, heterogenous group of mature T-cell neoplasms that comprise 10-15% of non-Hodgkin lymphoma cases in the United States. All subtypes of PTCL, except for ALK anaplastic T-cell lymphoma, are associated with poor prognosis, with median overall survival (OS) rates of 1-3 years. The diagnosis of PTCL is mainly based on clinical presentation, morphologic features, and immunophenotypes. Recent advances in genome sequencing and gene expression profiling have given new insights into the pathogenesis and molecular biology of PTCL. An enhanced understanding of its genomic landscape holds the promise of refining the diagnosis, prognosis, and management of PTCL. In this review, we examine recently discovered genetic abnormalities identified by molecular profiling in 3 of the most common types of PTCL: and epigenetic regulator mutations in angioimmunoblastic T-cell lymphoma, ALK expression and JAK/STAT3 pathway mutations in anaplastic T-cell lymphoma, and T-follicular helper phenotype and GATA3/TBX21 expression in PTCL-not otherwise specified. We also discuss the implications of these abnormalities for clinical practice, new/potential targeted therapies, and the role of personalized medicine in the management of PTCL.
外周T细胞淋巴瘤（PTCL）是一组罕见的、异质性的成熟T细胞肿瘤，在美国非霍奇金淋巴瘤病例中占10%-15%。除ALK间变性T细胞淋巴瘤外，PTCL的所有亚型预后均较差，中位总生存期（OS）为1-3年。PTCL的诊断主要基于临床表现、形态学特征和免疫表型。基因组测序和基因表达谱分析的最新进展为PTCL的发病机制和分子生物学提供了新的见解。对其基因组格局的深入了解有望改善PTCL的诊断、预后和管理。在本综述中，我们研究了通过分子谱分析在3种最常见的PTCL类型中发现的最近发现的基因异常：血管免疫母细胞性T细胞淋巴瘤中的表观遗传调节因子突变、间变性T细胞淋巴瘤中的ALK表达和JAK/STAT3通路突变，以及未另行指定的PTCL中的T滤泡辅助细胞表型和GATA3/TBX21表达。我们还讨论了这些异常对临床实践、新的/潜在的靶向治疗以及个性化医学在PTCL管理中的作用的影响。
