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IKZF3
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Interpretation 61
Tier 2
IKZF3
Variants
Primary Sites
Blood
Bone Marrow
Tumor Types
Chronic Myeloid Leukemia
Interpretation

IKZF3 is a member of the IKAROS family of transcription factors which are important in lymphoid development. Missense and frameshift mutations of IKZF3 have been reported in approximately 10% of chronic phase and matched blast phase of CML , approximately 10% of blastic plasmacytoid dendritic cell neoplasms and rare cases of acute lymphoblastic leukemia.

Citations
  1. Menezes J, et al. ASXL1, TP53 and IKZF3 mutations are present in the chronic phase and blast crisis of chronic myeloid leukemia. Blood Cancer J 2013;3():e157
  2. Menezes J, et al. Exome sequencing reveals novel and recurrent mutations with clinical impact in blastic plasmacytoid dendritic cell neoplasm. Leukemia 2014;28(4):823-9
  3. Holmfeldt L, et al. The genomic landscape of hypodiploid acute lymphoblastic leukemia. Nat Genet 2013;45(3):242-52
Last updated: 2016-06-05 02:00:23 UTC
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When using PMKB, please cite: Huang et al., JAMIA 2017


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