Published in:
Open Access
01-12-2012 | Meeting abstract
Recent advances in myelodysplasia: update from 2011 ASH annual meeting
Author:
Delong Liu
Published in:
Journal of Hematology & Oncology
|
Special Issue 1/2012
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Excerpt
Significant progresses have been made in genetic research in MDS. Through RNA interference technology, knock-down of RPS14 recapitulated the pathological process of decreased erythropoiesis [
1]. Transgenic expression of RPS14 in 5q- MDS cells rescued the phenotype of insufficient erythropoiesis. This strongly suggests that haploinsufficiency of RPS14 is one of the molecular mechanisms in the pathogenesis of 5q- MDS. SF3B1 is a core component of RNA splicesome and involved in the regulation of the mitochondrial pathway. In a study of 533 patients (pts) with MDS, 150 (28.1%) was found to have SF3B1 gene mutation, which has a positive predictive value of 97.7% for RARS and correlates well with better overall survival (OS) and lower risk for AML transformation [
2,
3]. …