title: Identification of SPAG9 as a novel JAK2 fusion partner gene in pediatric acute lymphoblastic leukemia with t(9;17)(p24;q21).
abstract: We have identified a novel SPAG9-JAK2 fusion in a B-cell precursor acute lymphoblastic leukemia (ALL) with t(9;17)(p24;q21) and a poor outcome, using paired-end transcriptome sequencing. Homozygous and hemizygous deletions of CDKN2A/2B, and hemizygous deletions of PAX5, BTG1, CDK6, ADARB2, and IKZF1 were also identified by multiple ligation-dependent probe amplification and single nucleotide polymorphism array analyses. Having both a tyrosine kinase-activating rearrangement and genomic lesions affecting lymphoid transcription factors suggested that the leukemia was of the Philadelphia chromosome (Ph)/BCR-ABL1-like ALL subtype and that JAK2 inhibitors might be able to overcome this aggressive ALL with SPAG9-JAK2.
authors.affiliation: Department of Hematology, Saitama Cancer Center, Saitama, Japan.|Department of Pediatrics, Tokyo Metropolitan Cancer and Infectious Diseases Center Komagome Hospital, Tokyo, Japan.|Department of Molecular Medical Research, Tokyo Metropolitan Institute of Medical Science, Tokyo, Japan.
authors.forename: Machiko
authors.initials: M
authors.lastname: Kawamura
authors.affiliation: Department of Molecular Diagnostics and Therapeutics, Kyoto Prefectural University of Medicine Graduate School of Medical Science, Kyoto, Japan.
authors.forename: Tomohiko
authors.initials: T
authors.lastname: Taki
authors.affiliation: Department of Pediatrics, Tokyo Metropolitan Cancer and Infectious Diseases Center Komagome Hospital, Tokyo, Japan.|Department of Pediatrics, Minamitama Hospital, Tokyo, Japan.
authors.forename: Hidefumi
authors.initials: H
authors.lastname: Kaku
authors.affiliation: Department of Hematology/Oncology, Gunma Children's Medical Center, Gunma, Japan.
authors.forename: Kentaro
authors.initials: K
authors.lastname: Ohki
authors.affiliation: Department of Hematology/Oncology, Gunma Children's Medical Center, Gunma, Japan.|Japanese Red Cross Gunma Blood Center, Gunma, Japan.
authors.forename: Yasuhide
authors.initials: Y
authors.lastname: Hayashi
mesh_terms: D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics*; D000293:Adolescent; D001402:B-Lymphocytes / Q000473:pathology; D002886:Chromosomes, Human, Pair 17; D050939:Gene Fusion; D006801:Humans; D053614:Janus Kinase 2 / Q000235:genetics*; D007964:Leukocytosis / Q000235:genetics; D008297:Male; D010677:Philadelphia Chromosome; D020641:Polymorphism, Single Nucleotide; D054198:Precursor Cell Lymphoblastic Leukemia-Lymphoma / Q000235:genetics*; D013921:Thrombocytopenia / Q000235:genetics; D014157:Transcription Factors / Q000235:genetics; D059467:Transcriptome
chemical_list: D048868:Adaptor Proteins, Signal Transducing; C111047:SPAG9 protein, human; D014157:Transcription Factors; C507924:JAK2 protein, human; D053614:Janus Kinase 2