Institute of Pathology, Centre Hospitalier Universitaire Vaudois, University of Lausanne, Lausanne, Switzerland.
Hematology Am Soc Hematol Educ Program. 2011;2011:336-43. doi: 10.1182/asheducation-2011.1.336.
Peripheral T-cell lymphomas (PTCLs) encompass a group of rare and usually clinically aggressive diseases. The classification and diagnosis of these diseases are compounded by their marked pathological heterogeneity and complex clinical features. With the exception of ALK-positive anaplastic large cell lymphoma (ALCL), which is defined on the basis of ALK rearrangements, genetic features play little role in the definition of other disease entities. In recent years, hitherto unrecognized chromosomal translocations have been reported in small subsets of PTCLs, and genome-wide array-based profiling investigations have provided novel insights into their molecular characteristics. This article summarizes the current knowledge on the best-characterized genetic and molecular alterations underlying the pathogenesis of PTCLs, with a focus on recent discoveries, their relevance to disease classification, and their management implications from a diagnostical and therapeutical perspective.
外周 T 细胞淋巴瘤（PTCLs）是一组罕见的、通常具有临床侵袭性的疾病。这些疾病的分类和诊断因病理异质性显著和临床表现复杂而变得复杂。除了基于 ALK 重排定义的间变性大细胞淋巴瘤（ALCL）外，其他疾病实体的定义很少涉及遗传特征。近年来，在一小部分 PTCL 中报道了先前未被识别的染色体易位，基于全基因组芯片的分析研究为其分子特征提供了新的见解。本文总结了目前对 PTCL 发病机制的最佳特征遗传和分子改变的认识，重点介绍了最近的发现、它们与疾病分类的相关性，以及从诊断和治疗角度来看它们对管理的影响。
