Title: SF3B1 Mutations Negatively Predict for Response to Immunosuppressive Therapy in Myelodysplastic Syndromes

Publication date: Available online 10 January 2020Source: Clinical Lymphoma Myeloma and LeukemiaAuthor(s): Qing Zhang, Mintallah Haider, Najla H. Al Ali, Jeffrey E. Lancet, Pearlie K. Epling-Burnette, Alan F. List, Eric Padron, Rami S. KomrokjiAbstractImmunosuppressive therapy (IST) yields durable hematologic improvement (HI) in a subset of patients with lower risk myelodysplastic syndrome (MDS). Age, HLA-DR15+, and duration of transfusion dependence are putative clinical variables predictive for response. We investigated the impact of somatic gene mutations on response to IST in lower risk MDS. Forty of 66 patients who received ATG +/- CSA identified at the Moffitt Cancer Center were molecularly profiled using a 49 gene myeloid panel. All patients profiled received ATG and CSA was used in 60% of patients. The overall frequency of HI was 42%. Neither presence of an LGL clone, hypocellular BM, HLA DR15+, trisomy 8, nor age influenced response to IST. Among 40 patients evaluated by NGS, the presence of an SF3B1 mutation (MT) was significantly associated with IST nonresponse (1 of 9 SF3B1 MT, 11% vs. 21 of 31 wild type (WT), 68%; p=0.002). All patients with SF3B1 MT had ring sideroblasts>15% (RS) by morphology and the corresponding HI rate was 20% among patients with RS vs 50% for those without RS, p=0.09. The median OS in patients with an SF3B1 MT was 111 months vs. 54 months in SF3B1 WT (p=0.016). These findings support the clinical implementation of genomics in MDS. The prese...
Source: Clinical Lymphoma Myeloma and Leukemia - Category: Cancer & Oncology Source Type: research