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  1. Myelodysplastic syndromes with 5q deletion: pathophysiology and role of lenalidomide

    ... to lenalidomide. It is recommended to identify TP53 mutation early in the disease since it may change the decision regarding ...

    Research Article last updated 04/17/2014 - 11:29am.

  2. Validation of a Prognostic Model and the Impact of Mutations in Patients With Lower-Risk Myelodysplastic Syndromes

    ... 1.85 to 4.52). CONCLUSION Combining the LR-PSS and EZH2 mutation status identifies 29% of patients with lower-risk MDS with a ...

    Research Article last updated 10/01/2012 - 10:09am.

  3. PNH - Basics

    ... PIG-A Gene Mutation PNH occurs because of a genetic change ( mutation ) in the PIG-A gene of a single stem cell in your bone ...

    Topic section last updated 04/05/2016 - 4:02pm.

  4. A Phase 2 Safety and Efficacy Study of RA101495 to Treat PNH Patients Who Have an Inadequate Response to Eculizumab

    ... limit of normal (ULN) and/or the presence of a known C5 mutation conferring resistance to eculizumab   ...

    Clinical Trial last updated 04/20/2017 - 11:14am.

  5. A Phase 1, Multicenter, Open-Label, Dose-Escalation and Expansion, Safety, Pharmacokinetic, Pharmacodynamic, and Clinical Activity Study of Orally Administered AG-120 in Subjects with Advanced Hematologic Malignancies with an IDH1 Mutation

    ... in advanced hematologic malignancies that harbor an IDH1 mutation . Status:  ...

    Clinical Trial last updated 02/22/2017 - 11:21am.

  6. Clinical Utility of Lenalidomide in the Treatment of Myelodysplastic Syndromes

    ... intermediate-risk MDS settings and a specific genetic mutation (deletion in the long arm of chromosome 5, abbreviated as del(5q). ... longer used to treat MDS due to its side effects. The mutation of del(5q) is important as it likely deletes genes that are important ...

    Research Review last updated 05/02/2016 - 9:12am.

  7. MEDALIST Trial

    ... in bone marrow or ≥ 5% (but < 15%) if SF3B1 mutation is present. - < 5% blasts in bone marrow - ...

    Clinical Trial last updated 02/22/2017 - 11:42am.

  8. Safety Study of AG-120 or AG-221 in Combination With Induction and Consolidation Therapy in Patients With Newly Diagnosed Acute Myeloid Leukemia With an IDH1 and/or IDH2 Mutation

    ... evaluate 1 dose level of AG-120 in patients with an IDH1 mutation and 2 dose levels of AG-221 in patients with an IDH2 mutation. AG-120 or AG-221 will be administered with 2 types of AML induction ...

    Clinical Trial last updated 04/28/2016 - 4:16pm.

  9. Dr. Vivienne Rebel reviews a recent study about p53 protein levels as a prognostic factor in MDS

    ... have shown that if the 5q deletion is accompanied by a mutation in the p53 gene (the official name of this gene in TP53), there is ... risk was clear even if the number of cells showing this mutation was relatively small.  The method currently used to identify p53 ...

    Research Review last updated 05/02/2016 - 9:17am.

  10. Hideki Makishima, MD, PhD

    ... PNH is a disease in which a mutation in the gene called PIG-A is acquired in the stem cells ... While previous discover of the PIG-A gene mutation has helped to explain the symptoms in the disease, it remains unclear ...

    Grant Recipient last updated 07/07/2014 - 11:46am.