Eunhee Kim

TL;DR: The recent genomic characterization of cancers has revealed recurrent somatic point mutations and copy number changes affecting genes encoding RNA splicing factors, which may create novel vulnerabilities in cancer cells that can be therapeutic exploited using compounds that can influence the splicing process.

TL;DR: It is reported that mutations affecting the splicing factor S RSF2 directly impair hematopoietic differentiation in vivo, which is not due to SRSF2 loss of function, and this data provide a mechanistic link between a mutant spliceosomal protein, alterations in thesplicing of key regulators, and impaired hematoiesis.

TL;DR: Refractory patients with MAP2K1- and ARAF-mutant histiocytoses had clinical responses to MEK inhibition and sorafenib, respectively, highlighting the importance of comprehensive genomic analysis of these disorders.

TL;DR: Loss of Asxl1 results in myelodysplastic syndrome, whereas concomitant deletion of Tet2 restores HSC self-renewal and triggers a more severe disease phenotype distinct from that seen in single-gene knockout mice.

TL;DR: Genetic and pharmacologic evidence is provided that leukemias with spliceosomal gene mutations are preferentially susceptible to additional splicing perturbations in vivo as compared to leukedmias without such mutations, and modulation of splicesome function may provide a new therapeutic avenue in genetically defined subsets of individuals with MDS or AML.