| Autor: |
Eisfeld, Ann-Kathrin, Kohlschmidt, Jessica, Mrózek, Krzysztof, Mims, Alice, Walker, Christopher J., Blachly, James S., Nicolet, Deedra, Orwick, Shelley, Maharry, Sophia E., Carroll, Andrew J., Powell, Bayard L., Kolitz, Jonathan E., Wang, Eunice S., Stone, Richard M., de la Chapelle, Albert, Byrd, John C., Bloomfield, Clara D. |
| Zdroj: |
Leukemia; December 2018, Vol. 32 Issue: 12 p2536-2545, 10p |
| Abstrakt: |
Targeted mutation assessment of 81 genes in 1021 adults with de novo acute myeloid leukemia (AML) identified recurrent mutations in the neurofibromin 1(NF1) gene in 52 (5.1%) patients, including 36 (5.2%) younger and 16 (4.8%) older patients, which suggests NF1belongs to the 20 most frequently mutated genes in adult AML. NF1mutations were found throughout the gene, and comprised missense, frameshift, and nonsense mutations. One mutation hotspot, at amino acid threonine 676 (Thr676), was found in 27% of AML patients with NF1mutations. NF1-mutated patients belonged more often to the adverse European LeukemiaNet (ELN) risk category than NF1wild-type patients. Among patients aged <60 years, the presence of NF1Thr676 mutations was associated with lower complete remission (CR) rates (P= 0.04) and shorter overall survival (OS; P= 0.01), as was the presence of any NF1mutation in patients in the adverse ELN risk category (CR, P= 0.05; OS, P< 0.001). CR rates were also lower in NF1-mutated patients aged ≥60 years compared with NF1wild-type patients (P= 0.001). In summary, our findings provide novel insights into the frequency of NF1mutations in AML, and are suggestive of an adverse prognostic impact in patients treated with standard chemotherapy. |
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