Myelodysplastic syndromes: Contemporary review and how we treat.
Rochester, United States. In Am J Hematol, Jan 2016
With the advent of next generation sequencing, recurrent somatic mutations in genes involved in epigenetic regulation (TET2, ASXL1, EZH2, DNMT3A, IDH1/2), RNA splicing (SF3B1, SRSF2, U2AF1, ZRSR2), DNA damage response (TP53), transcriptional regulation (RUNX1, BCOR, ETV6) and signal transduction (CBL, NRAS, JAK2) have been identified in MDS.
Acquired uniparental disomy of chromosome 9p in hematological malignancies.
Houston, United States. In Exp Hematol, Dec 2015
Since then, systematic application of genome-wide single nucleotide polymorphism arrays has demonstrated that 9p aUPD is the most common chromosomal aberration in myeloproliferative neoplasms (MPN) contributing to discovery of PV-defining mutation JAK2(V617F).