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Acute myeloid leukemia (AML) can be divided into subgroups based on cytogenetics. AML with t(8,21)(q22;q22) is considered a unique entity by the WHO within the category of “AML with recurrent genetic abnormalities.” Patients with this subtype are considered to be a favorable risk group due to the high remission and survival rates. In t(8;21)(q22;q22) patients, following the RUNX1-RUNX1T1 fusion, an additional genetic aberration is required to cause leukemia. Recent parallel sequencing studies have identified a long list of somatic gene mutations underlying the leukemogenesis of t(8;21) AML including RAS (K/NRAS) and tyrosine kinase (RTK) signaling pathways.
Whilst previous studies have been limited by small sample numbers, this study led by Friederike Christen from the Department of Hematology, Oncology, and Tumor Immunology, Charité, University Medical Center, Berlin, Germany, and colleagues, used a 66-gene targeted sequencing panel approach in a cohort of 331 adult patients with t(8;21) AML (median age: 41.7 years; range, 15–84), to comprehensively analyze commonly mutated genes which could be relevant to the choice of therapy used. Whole exome sequencing (WES) was also conducted on 19 pairs of diagnosis, complete remission (CR) and relapse trios, with the different genetic clones tracked during disease evolution.
Mutation and variant allele spectrum in t(8;21) AML
Clinico-biological associations and prognostic impact of gene mutations in t(8;21) AML
Profiling of somatic mutations in AML with t(8;21) at diagnosis, CR, and relapse
This comprehensive overview of the mutational landscape of AML t(8;21) has provided a foundation for future guided and risk-adapted treatment strategies. In this analysis, high levels of KIT and FLT3-ITD mutations were associated with poor prognosis. It was also observed that epigenetic regulator mutations more likely occurred before signaling mutations. As such, treatment with midostaurin, a multi-targeted kinase inhibitor for FLT3mutated AML, the multi-kinase inhibitor dasatinib or other RTK inhibitors, appear to be promising approaches to improving patient outcome.
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