Impact of spliceosome mutations on RNA splicing in myelodysplasia: dysregulated genes/pathways and clinical associations
Pellagatti A., Armstrong RN., Steeples V., Sharma E., Repapi E., Singh S., Sanchi A., Radujkovic A., Horn P., Dolatshad H., Roy S., Broxholme J., Lockstone H., Taylor S., Giagounidis A., Vyas P., Schuh A., Hamblin A., Papaemmanuil E., Killick S., Malcovati L., Hennrich ML., Gavin A-C., Ho AD., Luft T., Hellström-Lindberg E., Cazzola M., Smith CWJ., Smith S., Boultwood J.
Key Points RNA-seq analysis of CD34+ cells identifies novel aberrantly spliced genes and dysregulated pathways in splicing factor mutant MDS. Aberrantly spliced isoforms predict MDS survival and implicate dysregulation of focal adhesion and exosomes as drivers of poor survival.