Genomic Profiling Of Chinese Patients With Acute Myeloid Leukemia And Myelodysplastic Syndrome

CLINICAL LYMPHOMA MYELOMA & LEUKEMIA(2021)

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摘要
Objective: In this study, we aimed to investigate the genomic differences between Chinese patients with myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML), as well as the difference between Asian and Western patients. Methods: We systematically analyzed somatic alterations of fresh bone marrow aspirate or peripheral blood specimens from 58 patients with AML and 26 patients with MDS with a hybridization capture-based next-generation sequencing (NGS) panel, including 196 genes known to be somatically altered in human hematological malignancies. Results: At least one non-synonymous gene mutation was detected in 54 AML patients (93.1%) and 23 MDS patients (95.83%). Compared with AML patients aged Conclusions: In this study, we elucidated the landscape of gene mutations in Chinese AML/MDS, and we further identified significant genomic differences between Asian and Western patients, which should improve our understanding of pathogenesis and/or lead to a better selection of targeted therapies.
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关键词
AML, MDS, NGS, gene mutation
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