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  1. SF3B1 mutations in patients with myelodysplastic syndromes: the mutation is stable during disease evolution

    ... 2014 The SF3B1 mutation can be detected in patients with myelodysplastic syndrome (MDS), but the report regarding the association of this mutation with other genetic alterations and its stability during disease ...

    Research Article last updated 04/23/2014 - 11:18am.

  2. TP53 mutation characteristics in therapy-related myelodysplastic syndromes and acute myeloid leukemia is similar to de novo diseases

    ... BACKGROUND: TP53 mutation is more prevalent in therapy-related myeloid neoplasms (t-MN) ... t-MN, in which 40 patients (37%) had TP53 mutations. The mutation frequency was similar between t-MDS and t-AML; but significantly ...

    Research Article last updated 06/03/2015 - 1:04pm.

  3. Somatic HLA mutations expose the role of class I–mediated autoimmunity in aplastic anemia and its clonal complications

    ... HLA-B *40:02 alleles. Three patients had more than 1 mutation targeting the same HLA allele. Interestingly, HLA-B *14:02 and ... who inherited the targeted HLA alleles, regardless of HLA mutation status, had a more severe disease course with more frequent clonal ...

    Research Article last updated 10/23/2017 - 10:56am.

  4. Clinical trial reveals genetic fault that reduces the effectiveness of leukemia treatment

    ... worse outcome if their cancer cells carried a mutation to the CDKN2A gene. The results may help doctors tailor treatment ... This is the first time that mutations in the CDKN2A gene mutation have been linked to poorer survival in people with AML treated with ...

    Research Article last updated 09/29/2017 - 10:32am.

  5. Characterization of TP53 Mutations in Low-Grade Myelodysplastic Syndromes and Myelodysplastic Syndromes with a Non-Complex Karyotype

    ... binding domains and the majority of cases had only one mutation , irrespective of their karyotype and MDS subtype. The variant ...

    Research Article last updated 10/02/2017 - 10:56am.

  6. FDA approves new drug for relapsed or refractory AML

    ... leukemia with an isocitrate dehydrogenase-2 (IDH2) mutation as detected by an FDA-approved test. This is the first FDA ... for relapsed or refractory AML specifically with an IDH2 mutation. The FDA concurrently approved a companion diagnostic, the RealTime ...

    Article last updated 08/30/2017 - 8:30am.

  7. Targeted next-generation sequencing in myelodysplastic syndromes and prognostic interaction between mutations and IPSS-R

    ... 17% intermediate, 38% low and 16% very low. At least one mutation /variant was detected in 147 (82%) patients; 23% harbored three or ... 41% and 20% of patients harbored at least one adverse mutation/variant for overall and leukemia-free survival, respectively. Number ...

    Research Article last updated 09/18/2017 - 11:05am.

  8. A Study of E6201 for the Treatment of Advanced Hematologic Malignancies With FLT3 Mutation (AML)

    ... advanced hematologic malignancies with documented FLT3 mutation . The Phase1 portion of the study will be a safety run-in to ... with relapsed or refractory AML and confirmed FLT3 mutation without prior exposure to a FLT3 inhibitor while Cohort 2 will enroll ...

    Clinical Trial last updated 05/09/2016 - 4:09pm.

  9. 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.

  10. T Cell Transcriptomes from Paroxysmal Nocturnal Hemoglobinuria Patients Reveal Novel Signaling Pathways

    ... thrombosis . The etiology of PNH is a somatic mutation in the phosphatidylinositol glycan class A gene ( PIG-A ) on the ...

    Research Article last updated 07/27/2017 - 2:06pm.