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Status |
Public on May 01, 2024 |
Title |
Genomic profiles and survival prognosticators in African-American patients with acute myeloid leukemia |
Organism |
Homo sapiens |
Experiment type |
Expression profiling by high throughput sequencing
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Summary |
Genomic profiles and prognostic biomarkers in patients with acute myeloid leukemia (AML) from ancestry diverse populations are underexplored. We analyzed the exomes and transcriptomes of 100 Black patients with AML (Alliance) and compared somatic mutation frequencies with those of 323 White patients (BeatAML). Seventy-three percent of 162 recurrent gene mutations identified in Black patients, including a novel PHIP alteration detected in 7% of patients, were found in only ≤1 White patient. Black patients with myelodysplasia-related AML were younger than White patients suggesting intrinsic and/or extrinsic dysplasia-causing stressors. On multivariable outcome analyses of Black patients, NPM1 and NRAS mutations associated with inferior disease-free and IDH1/2 mutations with reduced overall survival. Inflammatory profiles, cell type distributions and transcriptional profiles differed between Black and White NPM1-mutated patients. Incorporation of ancestry-specific risk markers into the 2022 European LeukemiaNet genetic-risk stratification changed risk-group assignment for one-third of Black patients and improved their outcome prediction.
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Overall design |
Gene expression profiling at time of AML diagnosis
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Contributor(s) |
Eisfeld A, Mardis E, Nicolet D |
Citation missing |
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Submission date |
Apr 29, 2024 |
Last update date |
May 09, 2024 |
Contact name |
Deedra R Nicolet |
E-mail(s) |
nicolet.1@osu.edu
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Phone |
614-688-9749
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Organization name |
The Ohio State University
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Department |
CCC
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Street address |
1800 Cannon Drive, Rm 1250H
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City |
COLUMBUS |
State/province |
OH |
ZIP/Postal code |
43210 |
Country |
USA |
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Platforms (2) |
GPL20301 |
Illumina HiSeq 4000 (Homo sapiens) |
GPL24676 |
Illumina NovaSeq 6000 (Homo sapiens) |
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Samples (78)
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Relations |
BioProject |
PRJNA1105881 |