A RAG driver on the road to pediatric ALL.
Nijmegen, Netherlands. In Nat Genet, 28 Feb 2014
A new whole-genome sequencing study of ETV6-RUNX1-positive ALL has now identified RAG-mediated recombination, which specifically targets genes and regulatory elements active during B cell differentiation, as the underlying mechanism.
Somatic mutations and epigenetic abnormalities in myelodysplastic syndromes.
Paris, France. In Best Pract Res Clin Haematol, Dec 2013
Recently, the advent of next generation sequencing (NGS) techniques has helped identify somatic gene mutations in 75-80% of MDS, that cluster mainly in four functional groups, i.e. cytokine signaling (RAS genes), DNA methylation, (TET2, IDH1/2, DNMT3a genes) histone modifications (ASXL1 and EZH2 genes), and spliceosome (SF3B1 and SRSF2 genes) along with mutations of RUNX1 and TP 53 genes.
A role for RUNX1 in hematopoiesis and myeloid leukemia.
Tokyo, Japan. In Int J Hematol, Jun 2013
Since its discovery from a translocation in leukemias, the runt-related transcription factor 1/acute myelogenous leukemia-1 (RUNX1/AML1), which is widely expressed in hematopoietic cells, has been extensively studied.