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Exome sequencing identifies somatic mutations of DDX3X in natural killer/T-cell lymphoma

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单位： [1]State 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 [2]Department of Otorhinolaryngology, Rui Jin Hospital, SJTU School of Medicine, Shanghai, China [3]Department of Oncology, Second Affiliated Hospital of Zhejiang University School of Medicine, Hangzhou, China [4]Department of Hematology, Tongji Medical College, Huazhong University of Science and Technology, Tongji Hospital, Wuhan, China [5]Fujian Institute of Hematology, Fujian Medical University Union Hospital, Fuzhou, China [6]Department of Pathology, Shanxi Oncology Hospital, Taiyuan, China [7]Department of Oncology, Jiangsu Cancer Hospital, Nanjing, China [8]Department of Hematology, Second Affiliated Hospital of Shanxi Medical University, Taiyuan, China [9]Department of Hematology, Anhui Oncology Hospital, Bengbu Medical College, Bengbu, China [10]Department of Hematology, Changhai Hospital, Second Military Medical University, Shanghai, China [11]Department of Hematology, Beijing Friendship Hospital, Capital Medical University, Beijing, China [12]Department of Hematology, First Affiliated Hospital of Guangxi Medical University, Nanning, China [13]Department of Hematology, Renji Hospital, SJTU School of Medicine, Shanghai, China [14]Department of Hematology, Anhui Provincial Hospital, Hefei, China [15]Department of Radiation Oncology, Eye and ENT Hospital of Fudan University, Shanghai, China [16]Department of Hematology, Shanghai Tenth People’s Hospital, Tongji University School of Medicine, Shanghai, China [17]Department of Hematology, Changzheng Hospital, Second Military Medical University, Shanghai, China [18]Department of Hematology, Second Hospital of Dalian Medical University, Dalian, China [19]Pôle de Recherches Sino-Français en Science du Vivant etGénomique, Laboratory of Molecular Pathology, Shanghai, China

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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(1). 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-kappa B 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.

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出版当年[2014]版：

大类 | 1 区

生物

小类 | 1 区遗传学

最新[2025]版：

大类 | 1 区

生物学

小类 | 1 区遗传学

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出版当年[2013]版：

Q1 GENETICS & HEREDITY

最新[2023]版：

Q1 GENETICS & HEREDITY

影响因子： 最新[2023版] 31.8 最新五年平均[2021-2025] 36.6 出版当年[2013版] 29.648 出版当年五年平均[2009-2013] 32.138 出版前一年[2012版] 35.209 出版后一年[2014版] 29.352

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第一作者单位： [1]State 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

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通讯机构： [1]State 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 [19]Pôle de Recherches Sino-Français en Science du Vivant etGénomique, Laboratory of Molecular Pathology, Shanghai, China

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