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Core-binding factor runt domain a-subunit 2 translocated to 3 (CBFA2T3)-GLIS family zinc finger 2 (GLIS2) fusion protein as a biomarker for non-Down syndrome acute megakaryoblastic leukemia (non-DS-AMKL)

Genetic and in vitro studies suggest the CBFA2T3-GLIS2 fusion protein could be useful as a biomarker in pediatric non-DS-AMKL. In patients with pediatric non-DS-AMKL, 7 of 14 patients showed an inversion in chromosome 16 that led to expression of a CBFA2T3-GLIS2 fusion protein. In 12 pediatric patients carrying the mutations, 5-year survival was lower than that for 28 pediatric patients without the mutation. In murine hematopoietic progenitor cells, expression of the fusion protein increased self-renewal capacity compared with expression of GLIS2 alone, suggesting the fusion protein contributes to leukemogenesis. Next steps could include additional validation studies.

SciBX 5(46); doi:10.1038/scibx.2012.1220
Published online Nov. 29, 2012

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Gruber, T.A. et al. Cancer Cell; published online Nov. 13, 2012;
Contact: James R. Downing, St. Jude Children's Research Hospital, Memphis, Tenn.