Genomic analysis of adult T-cell leukemia/lymphoma in Okinawa Prefecture

2020 Fiscal Year Final Research Report

• Project/Area Number: 19K17835
• Research Category: Grant-in-Aid for Early-Career Scientists
• Allocation Type: Multi-year Fund
• Review Section: Basic Section 54010:Hematology and medical oncology-related
• Research Institution: University of the Ryukyus
• Principal Investigator: Sakihama Shugo 琉球大学, 医学(系)研究科(研究院), 助教 (30835129)
• Project Period (FY): 2019-04-01 – 2021-03-31
• Keywords: 成人T細胞白血病／リンパ腫 / ヒトT細胞白血病ウイルスI型 / HTLV-1 tax遺伝子型 / 遺伝子異常

Outline of Final Research Achievements

Adult T-cell leukemia/lymphoma (ATL) is a distinct peripheral T-cell malignancy caused by human T-cell leukemia virus type I (HTLV-1). Eighty-nine patients with ATL were analyzed for genetic abnormalities, and some of the mutated genes were detected more frequently in patients in Okinawa, who infected with HTLV-1 tax subgroup A. We also investigated the association between genetic abnormalities and survival. Consistent with previous reports, mutations in the PRKCB gene were associated with short-term survival. In addition, it was suggested that damage to both alleles of the PRDM1 gene might be associated with poor prognosis.

Free Research Field

血液腫瘍

Academic Significance and Societal Importance of the Research Achievements

本研究により、ATLの遺伝子異常とHTLV-1のウイルスタイプとの関連が初めて示唆された。ATLの遺伝子異常と患者の生存との関連を解析した結果、PRKCB遺伝子の変異が予後に及ぼす影響の再現性が確認されるとともに、PRDM1遺伝子の両アレル異常が予後不良に関与する可能性が示唆された。生存に影響を与える異常の同定および再現性の確認は、疾患の発症機序解明および治療薬開発に重要と考えられる。