Association for Molecular Pathology (AMP) Europe | Rotterdam, The Netherlands 2018
Verity Johnson, Marc Bessete, Benjamin Van Deusen, Laura Johnson, Namitha M. Nair, Josh D. Haimes, Kaitlyn E. Moore, Laura M. Griffin, Abel Licon, Ryan D. Walters, Brian Kudlow. ArcherDX, Boulder, CO. USA.
Acute Myeloid Leukemia (AML) is clinically and biologically heterogeneous, requiring the detection of mutations across multiple genes for characterization. Internal tandem duplications (ITDs) in FLT3, detected in about 25% of AML cases, cause aberrant cell growth leading to tumorigenesis and are associated with poor prognosis. CEBPA has an important role in myeloid differentiation, and mutations in the gene are the most common mutations detected in cytogenetically normal AML. Consequently, the WHO recommends characterization of CEBPA mutations for hematopoietic and lymphoid tumor classification. While FLT3-ITDs and CEBPA mutations represent important markers in AML, 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.