Identification of a novel JAK2-related fusion gene and elucidation of molecular mechanism in leukemia

2013 Fiscal Year Final Research Report

• Project/Area Number: 22591172
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Single-year Grants
• Section: 一般
• Research Field: Pediatrics
• Research Institution: Tokyo Metropolitan Institute of Medical Science
• Principal Investigator: KAWAMURA Machiko 公益財団法人東京都医学総合研究所, ゲノム医科学研究分野, 研究員 (80450592)
• Co-Investigator(Kenkyū-buntansha): TAKI Tomohiko 京都府立医科大学, 大学院医学研究科, 講師 (50322053)
• Co-Investigator(Renkei-kenkyūsha): HAYASHI Yasuhide 群馬県衛生環境研究所, 研究企画係, 研究員 (30238133) ; TASHIRO Satoshi 広島大学, 原爆放射線医科学研究所, 教授 (20243610) ; SAKURABA Hitoshi 明治薬科大学, 臨床遺伝学講座, 教授 (60114493)
• Project Period (FY): 2010-04-01 – 2013-03-31
• Keywords: JAK2遺伝子 / 白血病 / 融合遺伝子 / 染色体転座 / SPAG9遺伝子

Outline of Final Research Achievements

We observed a t(9;17)(p24;q21) translocation in a 14-year old male with B-progenitor acute lymphoblastic leukemia having myeloid antigen who had poor prognosis, and identified a novel SPAG9-JAK2 fusion gene using paired end messenger RNA sequencing (mRNA-seq). Further SNP array and multiple ligation-dependent probe amplification analysis (MLPA) identified the homozygous deletion of CDKN2A and hemizygous deletion of CDKN2B, PAX5, BTG1, and IKZF1. This ALL having both rearrangement of activating tyrosine kinase and genomic lesions affecting lymphoid transcription factors is similar to the Philadelphia chromosome (Ph) /BCR-ABL1 like ALL subgroup. This novel translocation identifies JAK2 gene as a possible therapeutics target in ALL.

Free Research Field

小児科