Establishment of new diagnostic method for HTLV-1 related diseases using MinION nanopore sequencer

2018 Fiscal Year Final Research Report

• Project/Area Number: 17K15044
• Research Category: Grant-in-Aid for Young Scientists (B)
• Allocation Type: Multi-year Fund
• Research Field: Medical genome science
• Research Institution: The University of Tokyo
• Principal Investigator: Firouzi Sanaz 東京大学, 大学院新領域創成科学研究科, 客員共同研究員 (30793400)
• Project Period (FY): 2017-04-01 – 2019-03-31
• Keywords: HTLV-1 / ATL / Personalized Medicine / Molecular Diagnosis / Nanopore Sequencer / Intratumor Heterogeneity / TCR clonality / Clonality analysis

Outline of Final Research Achievements

This study, using multi-omics approaches, in pursuit of determining potential biomarkers for disease development could achieve following findings: ①Clonality analysis based on provirus integration sites using NGS technology suggested possible applications of clonality in the molecular diagnosis of ATL, as well as predicting ATL development among HTLV-1-infected individuals (Blood advances 2017 and Human genomics 2017)②Development of a new methodology for easy-to-do, rapid and cheap enough analysis of clonality using MinIon sequencer③Showing presence of a high degree of intra-tumor heterogeneity(ITH) based on mutations among ATL patients using Whole Exome Sequencing(Neoplasia 2018).④determining TCR clonality by RNA sequencing might be useful for prognostic purposes and for personalizing ATL diagnosis and assessment of treatments(npj Gen. med.2019).

Free Research Field

Medical genome sciences

Academic Significance and Societal Importance of the Research Achievements

我々は当研究の結果を4つの査読有学術雑誌や国内外の学会に発表することができた。
また得られた研究結果はATL・その他HTLV-1関連疾患における診断、予後予測、治療および個別化医療の実現への道を開いた。これらの研究成果を応じて本研究は世界の学術研究の進展または日本だけではなく世界中のHTLV-1感染患者の命と暮らしに貢献し続けることができる。