Identification of promising marker(s) for essential thrombocythemia diagnosis by differential gene expression approach

2017 Fiscal Year Final Research Report

• Project/Area Number: 15K15368
• Research Category: Grant-in-Aid for Challenging Exploratory Research
• Allocation Type: Multi-year Fund
• Research Field: Hematology
• Research Institution: Juntendo University
• Principal Investigator: KOMATSU Norio 順天堂大学, 医学部, 教授 (50186798)
• Co-Investigator(Kenkyū-buntansha): 森下 総司 順天堂大学, 医学部, 助教 (10635866) ; 河合 純 国立研究開発法人理化学研究所, その他, 副プログラムディレクター (30391923) ; 荒木 真理人 順天堂大学, 医学(系)研究科(研究院), 准教授 (80613843)
• Project Period (FY): 2015-04-01 – 2018-03-31
• Keywords: 骨髄増殖性腫瘍 / 診断マーカー / 網羅的遺伝子発現解析 / 本態性血小板血症 / 血小板増多

Outline of Final Research Achievements

Diagnosis of essential thrombocythemia (ET) often faces to the difficulty of excluding the evidence for reactive thrombocytosis. This study aims to identify the novel genetic marker(s) to be used for the ET diagnosis, comparing the RNA expression profiles of ET and reactive thrombocytosis by the usage of RNA-Seq.
We successfully identified 57 genes to diagnose ET. Principal component analysis using reads per kilobase of exon per million mapped reads (RPKM) of the genes can clearly distinguish ET and reactive thrombocytosis. Validating the candidate genes by qPCR approach, CREB3L1 was identified. CREB3L1 was highly expressed among the patients having ET, in contrast, no expression was detected among neither patients having reactive thrombocytosis nor healthy controls. We showed the possibility of diagnosing ET by only quantifying the RNA expression of CREB3L1.

Free Research Field

血液学

Academic Significance and Societal Importance of the Research Achievements

本研究では，骨髄増殖性腫瘍と，それ以外の理由により血球数の増加をきたしている，反応性の症例をひとつの遺伝子の発現量で鑑別できることを見出した。この成果は，骨髄増殖性腫瘍の診断に有用であると考えられるため，有用性の評価を含めたさらなる検討を進めることで，医療の現場に多大なる貢献ができるものと期待される。