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  1. Making Progress for Myelodysplastic Syndromes

    ... sideroblasts or a certain gene splicing mutations, SF3B1 mutation . Other studies are testing drugs that can target the IDH2 mutation. They have been tested in leukemias and in subsets of patients with ...

    Article last updated 07/26/2017 - 10:25am.

  2. Paroxysmal Nocturnal Hemoglobinuria (PNH)

    ... 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 marrow ...

    Page last updated 09/30/2017 - 11:34am.

  3. Phase 1/2 Study of AG-221 in Subjects With Advanced Hematologic Malignancies With an IDH2 Mutation

    ... advanced hematologic malignancies that harbor an IDH2 mutation . The study includes a dose escalation phase to determine the ...

    Clinical Trial last updated 05/03/2016 - 11:40am.

  4. 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 . The first portion of the study is a dose escalation phase where ...

    Clinical Trial last updated 05/03/2016 - 11:37am.

  5. David Araten, MD

    ... cells. This clone has as its feature the presence of a mutation in a gene called PIG-A. Different patients have different types of ... PNH. We have recently found 4 patients with PNH who have a mutation in genes other than PIG-A--  the JAK2 and the TET2 genes. Three out ...

    Grant Recipient last updated 11/30/2016 - 10:51am.

  6. Prognostic significance of SETBP1 mutations in myelodysplastic syndromes, chronic myelomonocytic leukemia, and chronic neutrophilic leukemia: A meta-analysis

    ... to calculate the prognostic significance of SETBP1 mutation in patients. RESULTS: A total of 12 studies with 2321 ... CONCLUSIONS: Current evidence shows that SETBP1 mutation is associated with a poor prognosis in patients with MDS and CMML, but ...

    Research Article last updated 02/21/2017 - 10:33am.

  7. Genetics and Epigenetics of Myelodysplastic Syndromes and Response to Drug Therapy: New Insights

    ... About 90% of patients harbor at least one somatic mutation . This review aimed to assess the potential of molecular ... In addition, patients with del5q subtype harboring TP53 mutation do not show a good response to lenalidomide therapy. In ...

    Research Article last updated 02/01/2017 - 8:15am.

  8. Alina Dulau Florea, MD

    ... (PNH). In this condition, due to a gene mutation , some bone marrow cells and their progeny in the blood lack an ... swallowing, or develop blood clots. The cause of the gene mutation is unknown. Some patients with other conditions, such as aplastic ...

    Grant Recipient last updated 01/12/2018 - 9:50am.

  9. MDS Rounds: An AAMDSIF Visiting Faculty Program

    ... relationship between clinical symptoms and genetic mutation profiles. •    During the past decade, extensive research ...

    Page last updated 01/24/2018 - 2:05pm.

  10. From Patient to PhD Candidate

    ... gene is often mutated in AML patient genomes, and this mutation is responsible for malignant reduction of blood lineages. Thus, ...

    Patient Chronicle last updated 06/12/2017 - 2:59pm.