Genetic landscape of adult T-cell leukemia/lymphoma

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  • KATAOKA Keisuke
    Department of Pathology and Tumor Biology, Graduate School of Medicine, Kyoto University
  • OGAWA Seishi
    Department of Pathology and Tumor Biology, Graduate School of Medicine, Kyoto University

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Other Title
  • 成人T細胞白血病リンパ腫の遺伝学的基盤の解明
  • セイジン Tサイボウ ハッケツビョウ リンパシュ ノ イデンガクテキ キバン ノ カイメイ

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Description

Adult T-cell leukemia/lymphoma (ATL) is a peripheral T-cell malignancy associated with HTLV-1 infection. To decipher the genetic landscape of ATL, we performed an integrated molecular analysis, which included whole-genome, whole-exome, transcriptome and targeted sequencing, as well as array-based copy number and methylation analyses. The somatic alterations are highly enriched for T-cell receptor/NF-κB signaling, the G-protein coupled receptor associated with T-cell migration, and other T-cell-related pathways as well as immune surveillance related genes. Among these, PLCG1, PRKCB, CARD11, VAV1, IRF4, CCR4, and CCR7 activating mutations and CTLA4-CD28 and ICOS-CD28 fusion genes have been identified. In addition, these genes significantly overlap with HTLV-1 Tax interactome. These results provide an important basis for the development of new ATL diagnostics and therapeuticsregimens.

Journal

  • Rinsho Ketsueki

    Rinsho Ketsueki 57 (4), 417-424, 2016

    The Japanese Society of Hematology

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