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Array Comparative Genomic Hybridization (Array CGH) for Detection of Genomic Copy Number Variants
Published on: February 21, 2015
Genomewide array-based comparative genomic hybridization analysis of acute promyelocytic leukemia
Sivasundaram Karnan1, Shinobu Tsuzuki, Hitoshi Kiyoi
1Division of Molecular Medicine, Aichi Cancer Center Research Institute, Chikusa-ku, Nagoya, Japan.
Genes, Chromosomes & Cancer
|January 19, 2006
Summary
Chromosomal imbalances are uncommon in acute promyelocytic leukemia (APL), despite the PML-RARA fusion. Some APL cases show specific genetic alterations, suggesting a role in leukemogenesis for a subset of patients.
Area of Science:
- Hematology
- Cancer Genomics
- Molecular Biology
Background:
- Acute promyelocytic leukemia (APL) is characterized by the t(15;17) translocation, forming the PML-RARA fusion protein.
- While the PML-RARA fusion is essential, it's insufficient for APL development, indicating other mechanisms are involved.
- Gene mutations are known leukemogenic factors, but copy number alterations in APL remain understudied.
Purpose of the Study:
- To investigate the role of chromosomal copy number alterations in acute promyelocytic leukemia.
- To identify recurrent genomic imbalances in APL clinical samples and cell lines.
Main Methods:
- Genomewide array-comparative genomic hybridization (aCGH) was performed.
- Analysis included 30 APL clinical samples and 2 APL cell lines.
Main Results:
- Approximately half (14/30) of APL clinical samples showed no detectable chromosomal imbalances.
- The remaining 16 cases, including cell lines, exhibited recurrent imbalances: loss of 1p36, 2p11, 16p, 17p, and gain of 8p, 8q, 13q.
- These findings indicate chromosomal imbalances are generally absent in APL.
Conclusions:
- Chromosomal imbalances are not a major feature of most acute promyelocytic leukemia cases.
- Specific, nonrandom chromosomal alterations may contribute to leukemogenesis in a limited number of APL patients.
