Deletions occurring on the long arm of chromosome 5 represent the most common abnormality in myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML). Aberrations involving chromosome 5 are observed in 42% of patients undergoing treatment for MDS. Deletions are usually large, with breakpoints located between 5q31-5q34, including the EGR1 and CSF1R genes.
The detection is based on a custom MLPA technique, using multiple probes in the region under investigation.
This test may also be applied in combination with:
- Karyotype analysis of bone marrow cells, combined with molecular detection of multiple chromosomal rearrangements
- Multicolor karyotype (M-FISH)