High-density single nucleotide polymorphism array analysis and ASXL1 gene mutation screening in chronic myeloid leukemia during disease progression
Copyright policy )High-density single nucleotide polymorphism array analysis and ASXL1 gene mutation screening in chronic myeloid leukemia during disease progression
We have undertaken a genome-wide single nucleotide polymorphism (SNP) array analysis of 41 chronic myeloid leukemia (CML) patients. In total, 44 regions of uniparental disomy (UPD) >3 Mb were identified in 24 of 32 patients in chronic phase (CP), and 21 regions of UPD >3 Mb were identified in 13 of 21 patients in blast crisis (BC). Chromosome 8 had the highest frequency of UPD regions in both CP and BC samples. Eight recurrent regions of UPD were observed among the 41 patients, with chromosome 8 showing the highest frequency. Ten regions of copy number change (CNC) >3 Mb were observed in 4 of 21 patients in BC, whereas none were observed in CP. We have identified several recurrent regions of UPD and CNC in CML that may be of pathogenetic importance. Overrepresentation of genomic aberrations (UPD and copy number gain) mapping to chromosome 8 was observed. Selected candidate genes mapping within the aberrant genomic regions were sequenced and mutation of the TP53 gene was observed in one case in BC and of the ASXL1 gene in 6 of 41 cases in CP or BC. Mutation of ASXL1 represents an important new molecular abnormality in CML.
- Oxford University Hospitals NHS Trust United Kingdom
- University of Oxford United Kingdom
- Northamptonshire Healthcare NHS Foundation Trust United Kingdom
- Royal Liverpool University Hospital United Kingdom
- Royal Liverpool and Broadgreen University Hospital NHS Trust United Kingdom
Genome, Human, Gene Dosage, Uniparental Disomy, Polymorphism, Single Nucleotide, ASXL1 mutation, Repressor Proteins, chronic myeloid leukemia, ASXL1 mutation; chronic myeloid leukemia; SNP array, Karyotyping, Leukemia, Myelogenous, Chronic, BCR-ABL Positive, Mutation, Disease Progression, Humans, Tumor Suppressor Protein p53, SNP array, Blast Crisis, Oligonucleotide Array Sequence Analysis
Genome, Human, Gene Dosage, Uniparental Disomy, Polymorphism, Single Nucleotide, ASXL1 mutation, Repressor Proteins, chronic myeloid leukemia, ASXL1 mutation; chronic myeloid leukemia; SNP array, Karyotyping, Leukemia, Myelogenous, Chronic, BCR-ABL Positive, Mutation, Disease Progression, Humans, Tumor Suppressor Protein p53, SNP array, Blast Crisis, Oligonucleotide Array Sequence Analysis
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