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High-density single nucleotide polymorphism array analysis and ASXL1 gene mutation screening in chronic myeloid
J Boultwood1, J Perry, R Zaman
1LRF Molecular Haematology Unit, NDCLS, University of Oxford, John Radcliffe Hospital, Oxford, UK. jacqueline.boultwood@ndcls.ox.ac.uk
Leukemia
|April 23, 2010
Summary
This study analyzed genomic alterations in chronic myeloid leukemia (CML) patients. We found uniparental disomy and copy number changes, particularly on chromosome 8, and identified ASXL1 mutations as a new abnormality in CML.
Area of Science:
- Genetics
- Oncology
- Molecular Biology
Background:
- Chronic myeloid leukemia (CML) is a myeloproliferative neoplasm characterized by the Philadelphia chromosome.
- Understanding the genomic landscape of CML beyond the BCR-ABL1 fusion is crucial for identifying new therapeutic targets.
Purpose of the Study:
- To investigate genome-wide copy number changes and uniparental disomy in chronic myeloid leukemia patients.
- To identify recurrent genomic aberrations and associated gene mutations in CML.
Main Methods:
- Genome-wide single nucleotide polymorphism (SNP) array analysis was performed on 41 CML patients.
- Regions of uniparental disomy (UPD) and copy number change (CNC) >3 Mb were identified.
- Candidate genes within aberrant regions were sequenced.
Main Results:
- 44 UPD regions were found in chronic phase (CP) and 21 in blast crisis (BC) patients.
- Chromosome 8 showed the highest frequency of UPD.
- Ten CNC regions were observed in BC patients, and ASXL1 mutations were found in 6/41 patients.
Conclusions:
- Recurrent UPD and CNC regions in CML may have pathogenetic significance.
- Overrepresentation of genomic aberrations on chromosome 8 was observed.
- ASXL1 mutations represent a novel molecular abnormality in CML.
