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  1. Clinical Outcomes With Ring Sideroblasts and SF3B1 Mutations in Myelodysplastic Syndromes: MDS Clinical Research Consortium Analysis

    ... categorizes patients with ≥ 5% RS and SF3B1 mutation as MDS-RS, in contrast to its prior MDS-RS classification (≥ 15% ... RESULTS: Of 471 patients identified, 16% showed SF3B1 mutation. More patients with mutated SF3B1 were lower-risk MDS. We found that ...

    Research Article last updated 07/18/2018 - 8:07am.

  2. IDH mutations are closely associated with mutations of DNMT3A, ASXL1 and SRSF2 in patients with myelodysplastic syndromes and are stable during disease evolution.

    ... P=0.007) and SRSF2 (45.5% vs. 11.8%, P<0.001). IDH2 mutation was a poor prognostic factor for overall survival in patients with ... demonstrated that all IDH-mutated patients retained the same mutation during disease evolution while none of the IDH-wild patients acquired ...

    Research Article last updated 07/20/2018 - 5:15pm.

  3. CHIP – A Promising Genetic Discovery for MDS, AML and Cardiovascular Disease

    ... population, it is still rare for most people with this mutation to develop a malignancy.  According to past AAMDSIF grantee ...

    Article last updated 08/30/2018 - 3:14pm.

  4. The small population of PIG-A mutant cells in myelodysplastic syndromes do not arise from multipotent hematopoietic stem cells

    ... a multipotent hematopoietic stem cell acquiring a PIG-A mutation . Many patients with aplastic anemia and ... T lymphocyte enrichment in proaerolysin selection. PIG-A mutation analyses on 3 patients showed that all of them harbored a matching ...

    Research Article last updated 07/20/2018 - 5:14pm.

  5. Mutational profiling of therapy-related myelodysplastic syndromes and acute myeloid leukemia by next generation sequencing, a comparison with de novo diseases

    ... Amplicon Cancer Panel (Illumina) covering mutation hotspots of 53 genes. Overall, mutation(s) were detected in 58.6% of t-MDS/AML and 56.8% of de novo MDS/AML. ...

    Research Article last updated 07/20/2018 - 5:15pm.

  6. BCOR and BCORL1 mutations in myelodysplastic syndromes and related disorders.

    ... of a MDS patient, we identified a somatic mutation in BCOR gene also mutated in AML. Sequencing of BCOR and related ... dependence, ASXL1, CBL, RUNX1, TEL/ETV6, and TP53 mutation status confirmed a significant inferior OS to patients with BCOR mutation (HR: 3.3; 95%CI 1.4-8.1; P=0.008). These data suggest that BCOR ...

    Research Article last updated 07/20/2018 - 5:15pm.

  7. Recurrent mutations in the U2AF1 splicing factor in myelodysplastic syndromes

    ... in the matched MDS sample. Here we show that a missense mutation affecting the serine at codon 34 (Ser34) in U2AF1 was recurrently ... increased risk of progression to sAML associated with this mutation. U2AF1 is a U2 auxiliary factor protein that recognizes the AG splice ...

    Research Article last updated 07/20/2018 - 5:14pm.

  8. Prognostic value of TP53 gene mutations in myelodysplastic syndromes and acute myeloid leukemia treated with azacitidine

    ... with high risk MDS or AML treated with AZA. A TP53 mutation was found in 23 patients (37.1%), associated with complex ... OS was negatively influenced by the presence of TP53 mutation (median OS 12.4 months versus 23.7 months, p<10-4), abnormal ...

    Research Article last updated 07/20/2018 - 5:15pm.

  9. Clinical roundtable monograph: Paroxysmal nocturnal hemoglobinuria: a case-based discussion.

    ... all ages. PNH is caused by the acquisition of a somatic mutation of the gene phosphatidylinositol glycan anchor (PIG-A) in a ... cell (HSC), with clonal expansion of the mutated HSC. The mutation causes a deficiency in the synthesis of glycosylphosphatidylinositol ...

    Research Article last updated 07/20/2018 - 5:15pm.

  10. Mutational analysis of therapy-related myelodysplastic syndromes and acute myelogenous leukemia

    ... comprise a poor-risk subset of MDS/AML. Large scale mutation profiling efforts in de novo MDS have identified mutations ... followed by TET2 in 4/38 (10.5%). Cases with a TP53 mutation or loss of the TP53 locus had a worse overall survival compared to ...

    Research Article last updated 07/20/2018 - 5:15pm.