Abstract：
Mature T-cell and natural killer (NK)-cell neoplasms (MTNKNs) are a highly heterogeneous group of lymphomas that represent 10-15 % of lymphoid neoplasms and have usually an aggressive behavior. Diagnosis can be challenging due to their overlapping clinical, histological and immunophenotypic features. Genetic data are not a routine component of the diagnostic algorithm for most MTNKNs. Indeed, unlike B-cell lymphomas, the genomic landscape of MTNKNs is not fully understood. Only few characteristic rearrangements can be easily identified with conventional cytogenetic methods and are an integral part of the diagnostic criteria, for instance the t(14;14)/inv(14) or t(X;14) abnormality harbored by 95 % of patients with T-cell prolymphocytic leukemia, or the ALK gene translocation observed in some forms of anaplastic large cell lymphoma. However, advances in molecular and cytogenetic techniques have brought new insights into MTNKN pathogenesis. Several recurrent genetic alterations have been identified, such as chromosomal losses involving tumor suppressor genes (SETD2, CDKN2A, TP53) and gains involving oncogenes (MYC), activating mutations in signaling pathways (JAK-STAT, RAS), and epigenetic dysregulation, that have improved our understanding of these pathologies. This work provides an overview of the cytogenetics knowledge in MTNKNs in the context of the new World Health Organization classification and the International Consensus Classification of hematolymphoid tumors. It describes key genetic alterations and their clinical implications. It also proposes recommendations on cytogenetic methods for MTNKN diagnosis.
摘要：
成熟的T细胞和自然杀伤（NK）细胞肿瘤（MTNKN）是高度异质性的淋巴瘤组，占淋巴样肿瘤的10-15％，通常具有攻击行为。由于它们的临床重叠，诊断可能具有挑战性，组织学和免疫表型特征。对于大多数MTNKN，遗传数据不是诊断算法的常规组成部分。的确,与B细胞淋巴瘤不同,MTNKNs的基因组景观尚未完全了解。只有少数的特征性重排可以用传统的细胞遗传学方法容易地识别，并且是诊断标准的组成部分。例如，t（14;14）/inv（14）或t（X;14）异常由95％的T细胞前淋巴细胞白血病患者所携带，或在某些形式的间变性大细胞淋巴瘤中观察到的ALK基因易位。然而,分子和细胞遗传学技术的进步为MTNKN发病机制带来了新的见解。已经确定了几种复发性遗传改变，例如涉及肿瘤抑制基因的染色体丢失(SETD2，CDKN2A，TP53)和涉及癌基因的增益(MYC)，激活信号通路中的突变(JAK-STAT，RAS),和表观遗传失调，提高了我们对这些病症的理解。这项工作在新的世界卫生组织分类和国际公认的血淋巴样肿瘤分类的背景下，概述了MTNKNs中的细胞遗传学知识。它描述了关键的遗传改变及其临床意义。它还提出了关于MTNKN诊断的细胞遗传学方法的建议。
