title: RUNX1 point mutations potentially identify a subset of early immature T-cell acute lymphoblastic leukaemia that may originate from differentiated T-cells.
abstract: The RUNX1/AML1 gene is among the most frequently mutated genes in human leukaemia. However, its association with T-cell acute lymphoblastic leukaemia (T-ALL) remains poorly understood. In order to examine RUNX1 point mutations in T-ALL, we conducted an amplicon-based deep sequencing in 65 Southeast Asian childhood patients and 20 T-ALL cell lines, and detected RUNX1 mutations in 6 patients (9.2%) and 5 cell lines (25%). Interestingly, RUNX1-mutated T-ALL cases seem to constitute a subset of early immature T-ALL that may originate from differentiated T-cells. This result provides a deeper insight into the mechanistic basis for leukaemogenesis.
authors.affiliation: Cancer Science Institute of Singapore, National University of Singapore, Singapore.
authors.forename: Michelle Meng Huang
authors.initials: MM
authors.lastname: Mok
authors.affiliation: Cancer Science Institute of Singapore, National University of Singapore, Singapore.
authors.forename: Linsen
authors.initials: L
authors.lastname: Du
authors.affiliation: Cancer Science Institute of Singapore, National University of Singapore, Singapore; Institute of Molecular and Cell Biology, A*STAR, Singapore.
authors.forename: Chelsia Qiuxia
authors.initials: CQ
authors.lastname: Wang
authors.affiliation: Institute of Molecular and Cell Biology, A*STAR, Singapore.
authors.forename: Vinay
authors.initials: V
authors.lastname: Tergaonkar
authors.affiliation: Department of Laboratory Medicine, National University Hospital, Singapore.
authors.forename: Te Chih
authors.initials: TC
authors.lastname: Liu
authors.affiliation: Department of Paediatrics, National University of Singapore, Singapore.
authors.forename: Shirley Kow
authors.initials: SK
authors.lastname: Yin Kham
authors.affiliation: Cancer Science Institute of Singapore, National University of Singapore, Singapore.
authors.forename: Takaomi
authors.initials: T
authors.lastname: Sanda
authors.affiliation: Department of Paediatrics, National University of Singapore, Singapore.
authors.forename: Allen Eng-Juh
authors.initials: AE
authors.lastname: Yeoh
authors.affiliation: Cancer Science Institute of Singapore, National University of Singapore, Singapore; Institute of Bioengineering and Nanotechnology, Singapore. Electronic address: csimo@nus.edu.sg.
authors.forename: Motomi
authors.initials: M
authors.lastname: Osato
mesh_terms: D000293:Adolescent; D002454:Cell Differentiation / Q000235:genetics*; D045744:Cell Line, Tumor; D002648:Child; D002675:Child, Preschool; D050676:Core Binding Factor Alpha 2 Subunit / Q000235:genetics*; D005260:Female; D019675:Genes, T-Cell Receptor gamma; D006801:Humans; D008297:Male; D017354:Point Mutation; D054218:Precursor T-Cell Lymphoblastic Leukemia-Lymphoma / Q000235:genetics* / Q000473:pathology*; D017384:Sequence Deletion; D055815:Young Adult
chemical_list: D050676:Core Binding Factor Alpha 2 Subunit; C493728:RUNX1 protein, human
keywords: AML1; ETP-ALL; Early immature T-ALL; RUNX1; TCRγ deletion