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Updated: Feb 6, 2026

Analysis of Human Natural Killer Cell Metabolism
09:03

Analysis of Human Natural Killer Cell Metabolism

Published on: June 22, 2020

7.4K

Frequent Mutations in Natural Killer/T Cell Lymphoma

Yanjie Zhang, Chaoping Li, Weili Xue

    Cellular Physiology and Biochemistry : International Journal of Experimental Cellular Physiology, Biochemistry, and Pharmacology
    |August 23, 2018
    PubMed

    Insights

    Next-generation sequencing (NGS) identified novel gene mutations in extranodal natural killer (NK)/T cell lymphoma (ENKTL). BCOR, TP53, and DDX3X are frequently mutated, offering potential therapeutic targets for this aggressive cancer.

    Area of Science:

    • Oncology
    • Genetics
    • Molecular Biology

    Background:

    • Extranodal natural killer (NK)/T cell lymphoma (ENKTL) is an aggressive malignancy with a poor prognosis.
    • Traditional Sanger sequencing has identified some somatic gene alterations in ENKTL.
    • Novel targeted therapies are needed due to the limited efficacy of current treatments.

    Purpose of the Study:

    • To review recurrent genetic aberrations in ENKTL detected by next-generation sequencing (NGS).
    • To identify frequently mutated genes and their potential as therapeutic targets or biomarkers.

    Main Methods:

    • Review of studies utilizing next-generation sequencing (NGS) to analyze genetic alterations in ENKTL.
    • Categorization of identified mutations into tumor suppressors, JAK/STAT cascade, and epigenetic modifiers.
    • Analysis of mutational frequencies of various genes.

    Main Results:

    • NGS revealed novel gene mutations in ENKTL, including epigenetic dysregulation and DDX3X mutations, often missed by traditional methods.
    • Recurrent aberrations were categorized into tumor suppressors (TP53, DDX3X, MGA), JAK/STAT cascade, and epigenetic modifiers (KMT2D, BCOR, ARID1A, EP300).
    • BCOR (16.9%), TP53 (14.7%), and DDX3X (13.6%) were the most frequently mutated genes.

    Conclusions:

    • NGS technology has significantly advanced the understanding of ENKTL pathogenesis by uncovering high-frequency mutations.
    • Identified genetic aberrations provide new insights into disease mechanisms.
    • These findings highlight potential novel biomarkers and therapeutic targets for ENKTL.
    Keywords:
    EnktlGenetic mutationsHigh-throughput DNA sequencing

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