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Jiang et al. J Transl Genet Genom 2021;5:323-40 Journal of Translational
DOI: 10.20517/jtgg.2021.21
Genetics and Genomics

Review Open Access

Genetics and genomics of extranodal natural killer/T
cell lymphoma: from etiology to treatment

Jiaxin Jiang, Zhaohui Ruan, Qianyu Wang, Li Jiang, Roujun Peng

Department of VIP Section, Sun Yat-sen University Cancer Center, State Key Laboratory Oncology in South China, Collaborative
Innovation Center of Cancer Medicine, Guangzhou 510060, Guangdong, China.
Correspondence to: Prof. Roujun Peng, Department of VIP Section, Sun Yat-sen University Cancer Center, State Key Laboratory
of Oncology in South China, Collaborative Innovation Center for Cancer Medicine, #651 Dongfeng Road East of Guangzhou
510060, Guangdong, China. E-mail: pengrj@sysucc.org.cn

How to cite this article: Jiang J, Ruan Z, Wang Q, Jiang L, Peng R. Genetics and genomics of extranodal natural killer/T cell
lymphoma: from etiology to treatment. J Transl Genet Genom 2021;5:323-40. https://dx.doi.org/10.20517/jtgg.2021.21

Received: 9 Apr 2021 First Decision: 30 Jun 2021 Revised: 13 Jul 2021 Accepted: 17 Aug 2021 First online: 18 Aug 2021

Academic Editors: Susan L. Slager, Sanjay Gupta Copy Editor: Yue-Yue Zhang Production Editor: Yue-Yue Zhang

Abstract
Extranodal natural killer/T cell lymphoma (NKTCL) is a heterogenous and unique epidemiological non-Hodgkin’s
lymphoma, which is strongly associated with Epstein-Barr virus (EBV) infection. Based on the development of
various sequencing methods and molecular biology technologies, genome- and transcriptome-wide association
studies of NKTCL have provided insight into the etiology and pathogenesis of NKTCL. Comparative genomic
hybridization detected variations in tumor suppressor genes such as PRDM1, RUNX3, and EZH2. Whole-exome
sequencing identified pathogenic variant such as DDX3X, and TP53. Signal pathways such as the Janus
kinase/signal transduction and activator of transcription pathway and nuclear factor kappaB pathway are
frequently abnormal in NKTCL. In addition, programmed death-1, programmed death ligand-1, and the human
leukocyte antigen risk alleles are significantly associated with NKTCL pathogenesis. Meanwhile, epigenetics
analysis has also exposited changes such as PTPRK, HACE1, microRNAs, and long non-coding RNAs, which play
important role on the development and biology of NKTCL. EBV infection is tightly correlated with NKTCL. Viral
genomic alterations and lytic genes of EBV are reported to have pathogenic effects on host cells that contribute to
the etiology of NKTCL. We summarize the genomic and genetic alterations during the pathogenesis and
development of NKTCL and exhibit the potential therapeutic targets that are worth exploring in future research and
clinical trials.

© The Author(s) 2021. Open Access This article is licensed under a Creative Commons Attribution 4.0
International License (https://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, sharing,
adaptation, distribution and reproduction in any medium or format, for any purpose, even commercially, as
long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and
indicate if changes were made.

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