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Background The molecular events that drive the transformation from myelodysplastic syndromes (MDS) to acute myeloid leukemia (AML) have yet to be fully characterized. We hypothesized that detection of these mutations at the time of transformation from MDS to AML may lead to poorer outcomes. Methods We analyzed 102 MDS patients who were admitted to our institution between 2004 and 2013, had wild-type (wt) FLT3-ITD and RAS at diagnosis, progressed to AML, and had serial mutation testing at both the MDS and AML stages. Results We detected FLT3-ITD and/or RAS mutations in twenty-seven (26%) patients at the time of transformation to AML. Twenty-two patients (81%) had RAS mutations and five (19%) had FLT3-ITD mutations. The median survival after leukemia transformation in patients who had detectable RAS and/or FLT3-ITD mutations was 2.4 months compared to 7.5 months in patients who retained wt RAS and FLT3-ITD (hazard ratio [HR]: 3.08, 95% confidence interval [CI]: 1.9–5.0, p FLT3-ITD and RAS mutations had independent prognostic significance for poor outcome.

S188 of AML, MDS, and MDS/MPN with t(v;5q33-34) remain poorly characterized. Methods: We queried our files for all myeloid neoplasms associated with t(v;5q33-34). Therapy-related myeloid neoplasms and cases with peripheral eosinophilia fulfilling criteria of myeloid/lymphoid neoplasms with abnormalities of PDGFRB were excluded. The clinicopathologic features of the study group were reviewed. Results: The study group (n1⁄417) included 12 men and 5 women with a median age of 64 years (range, 19 to 86 years). At presentation, 12 patients had AML, 4 had MDS, and 1 had MDS/MPN. In addition to t(v;5q3334) among patients with AML, 3 (25%) had neither myelodysplasia nor other MDS-related cytogenetics, 2 (17%) had myelodysplasia only, 5 (83%) had other MDS-related cytogenetic changes only, and 2 (17%) had myelodysplasia and other MDS-related cytogenetic changes. Among patients with MDS, 3/4 had only t(v;5q33-34) and 1 patient had a diploid karyotype and acquired t(v;5q33-34) at the time of transformation to AML. The patient with MDS/MPN had atypical chronic myelogenous leukemia and only t(v;5q33-34). Three patients with AML had a prior history of MPN (essential thrombocythemia, polycythemia vera, and MPN not otherwise specified), and 1 patient had chronic myelomonocytic leukemia. The latter case was the only patient with a history of prior cytotoxic therapy. A median follow up of 25 months (range, 1-108) was available on 14 patients. At last follow up, 10/14 patients were dead (all with AML) and 4 patients were alive (3 with MDS; 1 with MDS/MPN). Conclusions: AML with t(v;5q33-34) is associated with poor outcome but is not always associated with myelodysplasia or MDS-related cytogenetic features. Although a larger dataset is needed, in this study group patients with MDS or MDS/MPN and with t(v;5q33-34) seem to have a favorable outcome.