Actions

SETBP1

From www.haematologyetc.co.uk


Gene affected:
SETBP1 - SET binding protein


Clinical significance
Associated with several myeloid conditions, especially atypical CML. Associated with a poorer overall survival.



Function of gene


SETBP1 binds with SET nuclear oncoprotein to form a heterodimer complex which is thought to inhibit the activity of protein phosphatase type 2A (PP2A), a tumour suppressor, and increases the rate of cell proliferation


NGS panel gene coverage

Exon 4


Occurrence:

aCML (1~30%)
Poorer overall survival
MDS (approx. 6-7%)
Particularly in association with leukaemic transformation, often presenting as high grade disease with excess blasts and a typically normal karyotype
CMML (approx. 10%)
Poorer overall survival
MPN/MDS overlap syndromes NOS (5-10% of cases)
Significance unclear
AML (3% of cases)
Poorer overall survival


Associated genetic features: Associated with Monosomy 7 and ASXL1.



Links

GeneWiki link:
Gene Wiki entry for SETBP1
References
SETBP1 in aCML