Edit ID | Edit Comment | Time | |
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402467 | updating ikzf1 interp | 11/12/2018 3:41 PM |
IKZF1(Ikaros) is a transcriptional regulator of B cell development and is believed to have tumor suppressor-like properties. Deletions (whole gene and/or partial gene deletions) of IKZF1 have been reported in approximatel 15-28% of BCR-ABL1-Negative_B-cell ALL and 70-90% of BCR-ABL1-Positive B-cell ALL. Deletions in IKZF1 have been associated with adverse prognosis in various settings according to some, but not all studies, in addition, the mechansism of this potential effect remains to be elucidated. Potential loss of functions mutations (missense, nonsense, frameshift mutations) have also been reported in ALL and appear to be much less common (less than 5% of cases) than deletions. Interestingly, recent studies suggest that a polymorphism rs4132601(g.50470604) in 3'UTR region of IKZF1 may be associated with age of onset of ALL; this polymorphism is not assessed by this assay.
IKZF1(Ikaros) is a transcriptional regulator of B cell development and is believed to have tumor suppressor-like properties. Deletions (whole gene and/or partial gene deletions) of IKZF1 have been reported in approximately 15-28% of BCR-ABL1-Negative_B-cell ALL, 70-90% of BCR-ABL1-Positive B-cell ALL. IKZF1 mutations are also found in approximately 40% of "Ph-like" ALL. Loss of functions mutations (missense, nonsense, frameshift mutations) have also been reported in IKZF1 in ALL and appear to be much less common (less than 5% of cases) than deletions. Deletions and mutations in IKZF1 have been associated with adverse prognosis and greater risk of relapse.