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Preferential occurrence of spliceosome mutations in acute myeloid leukemia with preceding myelodysplastic syndrome and/or myelodysplasia morphology.
- Source :
- Leukemia & Lymphoma; Aug2015, Vol. 56 Issue 8, p2301-2308, 8p
- Publication Year :
- 2015
-
Abstract
- Spliceosome mutations are associated with myelodysplasia. Here, we aimed to evaluate the frequency and clinical associations of these mutations in 204 patients with acute myeloid leukemia with myelodysplasia-related changes (AML with MRC) and 37 with therapy-related AML (t-AML). The frequency of mutation-positive patients was 17.0%, includingU2AF1(8.3%),SRSF2(5.8%) andSF3B1(2.9%). Mutations were detected almost exclusively in patients with AML with MRC, especially in cases with a preceding myelodysplastic syndrome (MDS) history or myelodysplastic morphology. By contrast, mutations were rare in patients with only MDS-related cytogenetics or t-AML. The presence of a mutation had no impact on survival. In a paired analysis, 16.7% of mutation-negative patients in the MDS phase acquired mutations during leukemogenesis. Our observations highlight the preponderance of spliceosome mutations within a specific AML subgroup with myelodysplasia, and suggest that these mutations might contribute pathologically to leukemogenesis in such patients. [ABSTRACT FROM PUBLISHER]
Details
- Language :
- English
- ISSN :
- 10428194
- Volume :
- 56
- Issue :
- 8
- Database :
- Complementary Index
- Journal :
- Leukemia & Lymphoma
- Publication Type :
- Academic Journal
- Accession number :
- 110137810
- Full Text :
- https://doi.org/10.3109/10428194.2014.995648