Changes in the number of copies (duplication – amplification) of the RUNX1 gene on chromosome 21q22.1 (RUNX1 / AML1), mainly due to the intrachromosomal amplification of chromosome 21 (iAMP21), have been reported in childhood leukemias and clinical studies have shown that all patients with acute lymphoblastic leukemia (ALL) and with an increased number of RUNX1 gene copies are at an increased risk of relapse and have significantly lower survival rates than patients without this genetic defect.
Detection is based on a custom designed MLPA technique, using multiple probes for the regions under investigation.
This test may also be applied in combination with:
- Karyotyping of bone marrow cells, combined with MLPA for the detection of multiple chromosomal imbalances
- Multicolor karyotype (M-FISH)