A Mutational Landscape in Acute Myeloid Leukemia: Overview and Prognostic Impacts

急性髓系白血病突变图谱:概述及预后影响

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Abstract

Acute myeloid leukemia (AML) comprises 15-20% of pediatric leukemia and 35% of adult leukemia cases, requiring insights into prognostic factors of this disease to be an important aspect of diagnosis and treatment. A mutational profile of patients with AML is a crucial predictor of their outcome. Discernment of present mutations, co-mutation combinations, and variations in the mutations in a single gene requires proper research and analysis to determine their impact on a patient's prognosis. Common and infrequent mutations are continuously investigated and analyzed in different patient cohorts, bringing new insights that lead to changes in classifications, treatments, and diagnoses. For instance, mutations in NPM1, FLT3, and DNMT3A, three frequent driver mutations, have high incident rates with differing prognoses and treatments in pediatric and adult patients. AML patients with MECOM face particularly dire outcomes, as well as those with ASXL1 and TP53, making their mutational analysis crucial for review in developing a prognosis.

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