Deletions of the KZF1 (Ikaros) gene, on chromosome 7p12.2, are detected in almost all acute lymphoblastic leukemias (ALL) and especially in cases also carrying the BCR/ABL hybrid. IKZF1 deletions in ALL have generally been associated with recurrence and poor clinical outcome. These deletions may also occur in other hematological malignancies, as Ikaros proteins are active throughout the differentiation of B-lymphocytes.
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:
- Karyotyping of bone marrow cells, combined with MLPA for the detection of multiple chromosomal imbalances
- Multicolor karyotype (M-FISH)