Institute of Pathology, Department of Laboratory Medicine and Pathology, Lausanne University Hospital and Lausanne University, Lausanne, Switzerland.
Département de Pathologie, Hôpitaux Universitaires Henri Mondor, Assistance Publique-Hôpitaux de Paris, Créteil, France.
Blood. 2024 Oct 31;144(18):1855-1872. doi: 10.1182/blood.2023021786.
T- and natural killer (NK)-cell lymphomas are neoplasms derived from immature T cells (lymphoblastic lymphomas), or more commonly, from mature T and NK cells (peripheral T-cell lymphomas, PTCLs). PTCLs are rare but show marked biological and clinical diversity. They are usually aggressive and may present in lymph nodes, blood, bone marrow, or other organs. More than 30 T/NK-cell-derived neoplastic entities are recognized in the International Consensus Classification and the classification of the World Health Organization (fifth edition), both published in 2022, which integrate the most recent knowledge in hematology, immunology, pathology, and genetics. In both proposals, disease definition aims to integrate clinical features, etiology, implied cell of origin, morphology, phenotype, and genetic features into biologically and clinically relevant clinicopathologic entities. Cell derivation from innate immune cells or specific functional subsets of CD4+ T cells such as follicular helper T cells is a major determinant delineating entities. Accurate diagnosis of T/NK-cell lymphoma is essential for clinical management and mostly relies on tissue biopsies. Because the histological presentation may be heterogeneous and overlaps with that of many benign lymphoid proliferations and B-cell lymphomas, the diagnosis is often challenging. Disease location, morphology, and immunophenotyping remain the main features guiding the diagnosis, often complemented by genetic analysis including clonality and high-throughput sequencing mutational studies. This review provides a comprehensive overview of the classification and diagnosis of T-cell lymphoma in the context of current concepts and scientific knowledge.
T 细胞和自然杀伤 (NK) 细胞淋巴瘤是来源于未成熟 T 细胞（淋巴母细胞淋巴瘤）或更常见的成熟 T 和 NK 细胞（外周 T 细胞淋巴瘤，PTCL）的肿瘤。PTCL 较为罕见，但具有显著的生物学和临床异质性。它们通常具有侵袭性，可能出现在淋巴结、血液、骨髓或其他器官中。在 2022 年发表的国际共识分类和世界卫生组织（第五版）分类中，共识别出 30 多种源自 T/NK 细胞的肿瘤实体，这两个分类都整合了血液学、免疫学、病理学和遗传学方面的最新知识。在这两个建议中，疾病定义旨在将临床特征、病因、潜在的细胞起源、形态学、表型和遗传特征整合到具有生物学和临床意义的临床病理实体中。细胞来源于先天免疫细胞或 CD4+T 细胞的特定功能亚群，如滤泡辅助 T 细胞，是区分实体的主要决定因素。准确诊断 T/NK 细胞淋巴瘤对于临床管理至关重要，主要依赖于组织活检。由于组织学表现可能具有异质性，并与许多良性淋巴增生和 B 细胞淋巴瘤重叠，因此诊断通常具有挑战性。疾病部位、形态和免疫表型仍然是指导诊断的主要特征，通常通过遗传分析（包括克隆性和高通量测序突变研究）来补充。本综述提供了在当前概念和科学知识背景下，T 细胞淋巴瘤分类和诊断的全面概述。
