ArticleNature genetics2015
Exome sequencing identifies somatic mutations of DDX3X in natural killer/T-cell lymphoma.
Abstract readMulticenter Study
In one paragraph
Article in Nature genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 237 papers, 1 of them a synthesis that pooled it.
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237citing papers in PubMed, 1 pooled it
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Who cites it
237 citing papers in PubMed, 1 synthesis or guideline pooled it, 374 citations in OpenAlex.
- Spectrum of mutational signatures in T-cell lymphoma reveals a key role for UV radiation in cutaneous T-cell lymphoma.Scientific reports · 2021Pooled it
- Aberrant JAK-STAT signaling-mediated chromatin remodeling impairs the sensitivity of NK/T-cell lymphoma to chidamide.Clinical epigenetics · 2023Trial
- Combination of anti-PD-1 antibody with P-GEMOX as a potentially effective immunochemotherapy for advanced natural killer/T cell lymphoma.Signal transduction and targeted therapy · 2020Trial
- Article
- CNS involvement by EBV-positive extranodal T-cell lymphoma harboring STAT3 Y640F mutation following allogeneic hematopoietic stem cell transplantation: A case report.Radiology case reports · 2026Article
- Ribosome biogenesis and selective translational control as oncogenic vulnerabilities in hematologic malignancies.Molecular cancer · 2026Review
- p53 mutation-associated prognosis across cancer types underlines hematological malignancy as an applicable cancer type to p53-rescue therapy.Fundamental research · 2026Article
- Exploring the functional role of XIST in breast cancer from mechanisms to clinical implications.Discover oncology · 2026Review
- Review
- Viral-driven oncogenesis in T/NK-cell lymphomas: parallels and divergences between HTLV-1 and EBV.International journal of hematology · 2026Review
- The role of Epstein-Barr virus in NK/T cell lymphoproliferative disorders: molecular mechanisms and potential therapeutic strategies.Frontiers in immunology · 2026Review
- Peripheral blood immune profiling reveals key signatures in newly diagnosed NK/T cell lymphoma patients.Theranostics · 2026Article
- Molecular pathogenesis and evolving treatment landscape of extranodal NK/T-cell lymphoma.Proceedings of the Japan Academy. Series B, Physical and biological sciences · 2026Review
- Epstein-Barr virus-associated tumors: commonalities in pathogenesis and the tumor immune microenvironment.Frontiers in immunology · 2026Review
- Epstein-Barr Virus-Associated T/NK-Cell Neoplasms.Journal of medical virology · 2026Review
- Characterizing tumor microenvironment heterogeneity in EBVFrontiers in immunology · 2026Article
- Mature NK-cell lymphoma presenting with chylothorax and delirium: a rare emergency case.International journal of emergency medicine · 2025Article
- RNA helicase DDX3X promotes NK cell survival by supporting MCL1 expression.Journal of immunology (Baltimore, Md. : 1950) · 2025Article
- Common origins of autoimmune diseases and lymphoid malignancies.Trends in immunology · 2025Review
- Extranodal NK/T-cell lymphoma: an update of the molecular characterization of the tumor and microenvironment, and its clinical implications.The Lancet regional health. Western Pacific · 2025Review
177 more citing papers are in PubMed but not listed here.
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Authors and funding
38 authors at 17 institutions in 1 country.
Lu JiangState Key Laboratory of Medical Genomics, Shanghai Institute of Hematology, Rui Jin Hospital, Shanghai Jiao Tong University (SJTU) School of Medicine and Collaborative Innovation Center of Systems Biomedicine, Shanghai, China.
Zhao-Hui GuState Key Laboratory of Medical Genomics, Shanghai Institute of Hematology, Rui Jin Hospital, Shanghai Jiao Tong University (SJTU) School of Medicine and Collaborative Innovation Center of Systems Biomedicine, Shanghai, China.
Zi-Xun YanState Key Laboratory of Medical Genomics, Shanghai Institute of Hematology, Rui Jin Hospital, Shanghai Jiao Tong University (SJTU) School of Medicine and Collaborative Innovation Center of Systems Biomedicine, Shanghai, China.
Xia ZhaoState Key Laboratory of Medical Genomics, Shanghai Institute of Hematology, Rui Jin Hospital, Shanghai Jiao Tong University (SJTU) School of Medicine and Collaborative Innovation Center of Systems Biomedicine, Shanghai, China.
Yin-Yin XieState Key Laboratory of Medical Genomics, Shanghai Institute of Hematology, Rui Jin Hospital, Shanghai Jiao Tong University (SJTU) School of Medicine and Collaborative Innovation Center of Systems Biomedicine, Shanghai, China.
Zi-Guan ZhangState Key Laboratory of Medical Genomics, Shanghai Institute of Hematology, Rui Jin Hospital, Shanghai Jiao Tong University (SJTU) School of Medicine and Collaborative Innovation Center of Systems Biomedicine, Shanghai, China.
Chun-Ming PanState Key Laboratory of Medical Genomics, Shanghai Institute of Hematology, Rui Jin Hospital, Shanghai Jiao Tong University (SJTU) School of Medicine and Collaborative Innovation Center of Systems Biomedicine, Shanghai, China.
Yuan HuDepartment of Otorhinolaryngology, Rui Jin Hospital, SJTU School of Medicine, Shanghai, China.
Chang-Ping CaiDepartment of Otorhinolaryngology, Rui Jin Hospital, SJTU School of Medicine, Shanghai, China.
Ying DongDepartment of Oncology, Second Affiliated Hospital of Zhejiang University School of Medicine, Hangzhou, China.
Jin-Yan HuangState Key Laboratory of Medical Genomics, Shanghai Institute of Hematology, Rui Jin Hospital, Shanghai Jiao Tong University (SJTU) School of Medicine and Collaborative Innovation Center of Systems Biomedicine, Shanghai, China.
Li WangState Key Laboratory of Medical Genomics, Shanghai Institute of Hematology, Rui Jin Hospital, Shanghai Jiao Tong University (SJTU) School of Medicine and Collaborative Innovation Center of Systems Biomedicine, Shanghai, China.
Yang ShenState Key Laboratory of Medical Genomics, Shanghai Institute of Hematology, Rui Jin Hospital, Shanghai Jiao Tong University (SJTU) School of Medicine and Collaborative Innovation Center of Systems Biomedicine, Shanghai, China.
Guoyu MengState Key Laboratory of Medical Genomics, Shanghai Institute of Hematology, Rui Jin Hospital, Shanghai Jiao Tong University (SJTU) School of Medicine and Collaborative Innovation Center of Systems Biomedicine, Shanghai, China.
Jian-Feng ZhouDepartment of Hematology, Tongji Medical College, Huazhong University of Science and Technology, Tongji Hospital, Wuhan, China.
Jian-Da HuFujian Institute of Hematology, Fujian Medical University Union Hospital, Fuzhou, China.
Jin-Fen WangDepartment of Pathology, Shanxi Oncology Hospital, Taiyuan, China.
Yuan-Hua LiuDepartment of Oncology, Jiangsu Cancer Hospital, Nanjing, China.
Lin-Hua YangDepartment of Hematology, Second Affiliated Hospital of Shanxi Medical University, Taiyuan, China.
Feng ZhangDepartment of Hematology, Anhui Oncology Hospital, Bengbu Medical College, Bengbu, China.
Jian-Min WangDepartment of Hematology, Changhai Hospital, Second Military Medical University, Shanghai, China.
Zhao WangDepartment of Hematology, Beijing Friendship Hospital, Capital Medical University, Beijing, China.
Zhi-Gang PengDepartment of Hematology, First Affiliated Hospital of Guangxi Medical University, Nanning, China.
Fang-Yuan ChenDepartment of Hematology, Renji Hospital, SJTU School of Medicine, Shanghai, China.
Zi-Min SunDepartment of Hematology, Anhui Provincial Hospital, Hefei, China.
Hao DingDepartment of Radiation Oncology, Eye and ENT Hospital of Fudan University, Shanghai, China.
Ju-Mei ShiDepartment of Hematology, Shanghai Tenth People's Hospital, Tongji University School of Medicine, Shanghai, China.
Jian HouDepartment of Hematology, Changzheng Hospital, Second Military Medical University, Shanghai, China.
Jin-Song YanDepartment of Hematology, Second Hospital of Dalian Medical University, Dalian, China.
Jing-Yi ShiState Key Laboratory of Medical Genomics, Shanghai Institute of Hematology, Rui Jin Hospital, Shanghai Jiao Tong University (SJTU) School of Medicine and Collaborative Innovation Center of Systems Biomedicine, Shanghai, China.
Lan XuState Key Laboratory of Medical Genomics, Shanghai Institute of Hematology, Rui Jin Hospital, Shanghai Jiao Tong University (SJTU) School of Medicine and Collaborative Innovation Center of Systems Biomedicine, Shanghai, China.
Yang LiState Key Laboratory of Medical Genomics, Shanghai Institute of Hematology, Rui Jin Hospital, Shanghai Jiao Tong University (SJTU) School of Medicine and Collaborative Innovation Center of Systems Biomedicine, Shanghai, China.
Jing LuState Key Laboratory of Medical Genomics, Shanghai Institute of Hematology, Rui Jin Hospital, Shanghai Jiao Tong University (SJTU) School of Medicine and Collaborative Innovation Center of Systems Biomedicine, Shanghai, China.
Zhong ZhengState Key Laboratory of Medical Genomics, Shanghai Institute of Hematology, Rui Jin Hospital, Shanghai Jiao Tong University (SJTU) School of Medicine and Collaborative Innovation Center of Systems Biomedicine, Shanghai, China.
Wen XueState Key Laboratory of Medical Genomics, Shanghai Institute of Hematology, Rui Jin Hospital, Shanghai Jiao Tong University (SJTU) School of Medicine and Collaborative Innovation Center of Systems Biomedicine, Shanghai, China.
Wei-Li ZhaoState Key Laboratory of Medical Genomics, Shanghai Institute of Hematology, Rui Jin Hospital, Shanghai Jiao Tong University (SJTU) School of Medicine and Collaborative Innovation Center of Systems Biomedicine, Shanghai, China.
Zhu ChenState Key Laboratory of Medical Genomics, Shanghai Institute of Hematology, Rui Jin Hospital, Shanghai Jiao Tong University (SJTU) School of Medicine and Collaborative Innovation Center of Systems Biomedicine, Shanghai, China.
Sai-Juan ChenState Key Laboratory of Medical Genomics, Shanghai Institute of Hematology, Rui Jin Hospital, Shanghai Jiao Tong University (SJTU) School of Medicine and Collaborative Innovation Center of Systems Biomedicine, Shanghai, China.
Shanghai Jiao Tong University · CNShanghai Institute of Hematology · CNSecond Military Medical University · CNShanxi Medical University · CNAnhui Provincial Hospital · CNBeijing Friendship Hospital · CNBengbu Medical College · CNDalian Medical University · CNEye & ENT Hospital of Fudan University · CNFujian Medical University · CNGuangxi Medical University · CNHuazhong University of Science and Technology · CNJiangsu Cancer Hospital · CNRenji Hospital · CNSecond Affiliated Hospital of Zhejiang University · CNShanghai Tenth People's Hospital · CNTongji Hospital · CN
Funding
No grant is acknowledged in the PubMed record.
Abstract
Natural killer/T-cell lymphoma (NKTCL) is a malignant proliferation of CD56(+) and cytoCD3(+) lymphocytes with aggressive clinical course, which is prevalent in Asian and South American populations. The molecular pathogenesis of NKTCL has largely remained elusive. We identified somatic gene mutations in 25 people with NKTCL by whole-exome sequencing and confirmed them in an extended validation group of 80 people by targeted sequencing. Recurrent mutations were most frequently located in the RNA helicase gene DDX3X (21/105 subjects, 20.0%), tumor suppressors (TP53 and MGA), JAK-STAT-pathway molecules (STAT3 and STAT5B) and epigenetic modifiers (MLL2, ARID1A, EP300 and ASXL3). As compared to wild-type protein, DDX3X mutants exhibited decreased RNA-unwinding activity, loss of suppressive effects on cell-cycle progression in NK cells and transcriptional activation of NF-κB and MAPK pathways. Clinically, patients with DDX3X mutations presented a poor prognosis. Our work thus contributes to the understanding of the disease mechanism of NKTCL.
Indexed as
ExomeAdultAgedAged, 80 and overAmino Acid SequenceCell CycleDEAD-box RNA HelicasesDNA Mutational AnalysisFemaleHumansKaplan-Meier EstimateLymphoma, T-CellMaleMiddle AgedMolecular Sequence DataMutationDDX3X protein, humanDEAD-box RNA Helicases
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