Gene affected:
IKZF1 - Ikaros family zinc finger 1IKZF1 - Ikaros family zinc finger 1
Clinical significance
Somatic mutation of IKFZ1 is frequent in B-lineage ALL particularly where BCR/ABL1 is expressed. In myeloid disease mutation is less common; however, mutation occurs frequently in transformation of MPN (15-20% of cases). Infrequently, germline lesions of the gene may underlie congenital combined immunodeficiencies.

Function of gene

The IKFZ1 protein (Ikaros) is expressed by cells at all stages of hematopoiesis. It is involved in chromatin re-modelling and acts to promote transcription of factors that control both lymphocyte and myeloid development, promoting their differentiation and reducing proliferation. Loss of IKFZ1 function therefore favours formation of more proliferative and less differentiated cells.

NGS panel gene coverage

Full sequence


Acquired lesions
Loss of IKZF1 is associated with deletion of the short arm of chromosome 7, but may also arise through specific mutation
de novo AML (rare)
Secondary AML (19%) - a frequent feature of MPN-preceded secondary AML
ALL (children and adults)
Heterozygous loss of IKZF1 underlies 15% of B-cell precursor acute lymphoblastic leukemia (BCP-ALL) patients
This rises to 70%-80% where BCR/ABL1 is expressed, and is associated with a poor clinical outcome.
In T-ALL heterozygous loss of IKZF1 is uncommon.
Germline mutations have been associated with combined immune deficiency states affecting lymphoid (T and B cell) and myeloid lineages


GeneWiki link:
Gene Wiki entry for IKZF1
1. Role in B-cell precursor ALL
2. Role in immunodeficiency
3. role in AML