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IKZF2
Variants
VariantGeneTypeCOSMIC IDDNA Change (Coding Nucleotide)Exon

Interpretations

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Tier 2
IKZF2
Variants
Primary Sites
Blood
Bone Marrow
Tumor Types
B Lymphoblastic Leukemia/Lymphoma
T Lymphoblastic Leukemia/Lymphoma
Interpretation

Copy number loss of in IKZF2 (HELIOS) have been described in approximately 50-60% of low haploid acute lymphoblastic leukemia. Occasional inactivating mutations of IKZF2 have also been described. IKZF2 and Ras pathway alterations are usually mutually exclisive according to one report. In some experimental models, higher amounts of pERK and pS6 were observed after knockdown of Ikzf2 in cell lines. This raises the possibility that IKZF2 is a modulator of Ras and PI3K signaling and the efficacy of therapeutic targeting of PI3K and mTOR in such cases remains to be determined.

Last updated: 2016-06-04 21:20:50 UTC
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When using PMKB, please cite: Huang et al., JAMIA 2017


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