Accurate Detection of FLT3-ITDs and CEBPA Variants in Acute Myeloid Leukemia by Anchored Multiplex PCR and Next Generation Sequencing

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Association for Molecular Pathology (AMP) | San Antonio, USA 2018

Verity Johnson, Kaitlyn E. Moore, William M. Castor, Laura M. Griffin, Aaron Berlin, Abel Licon, Ryan D. Walters.

ArcherDX, Boulder, CO. USA.Acute Myeloid Leukemia (AML) is clinically and biologically heterogeneous, requiring the detection of mutations across multiple genes for characterization. FLT3-ITDs and CEBPA mutations represent important markers in AML, however they are difficult to detect by NGS due to the highly variable nature of ITDs, the high GC content of CEBPA, and the difficulty in mapping repeated sequences to a wild-type reference. Tracking of very low frequency mutations is also of growing interest with regards to AML. The ability to accurately detect variants at very low allele fractions (AFs) can be used to assess treatment efficacy and potential relapse.

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