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RUNX1 point mutations potentially identify a subset of early immature T-cell acute lymphoblastic leukaemia that may originate from differentiated T-cells |
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| Authors: | Michelle Meng Huang Mok Linsen Du Chelsia Qiuxia Wang Vinay Tergaonkar Te Chih Liu Shirley Kow Yin Kham Takaomi Sanda Allen Eng-Juh Yeoh Motomi Osato |
| Institution: | 1. Cancer Science Institute of Singapore, National University of Singapore, Singapore;2. Institute of Molecular and Cell Biology, A*STAR, Singapore;3. Department of Laboratory Medicine, National University Hospital, Singapore;4. Department of Paediatrics, National University of Singapore, Singapore;5. Institute of Bioengineering and Nanotechnology, Singapore |
| 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. |
| Keywords: | ABD absence of biallelic deletion CNV copy number variation cCD3 cytoplasmic CD3 ETP-ALL early T-cell precursor acute lymphoblastic leukaemia gDNA genomic DNA PCR polymerase chain reaction RD Runt domain sCD3 surface CD3 SNP single nucleotide polymorphism TAD transactivation domain TCR T cell receptor TdT terminal deoxynucleotidyl transferase T-ALL T-cell acute lymphoblastic leukaemia |
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