%0 Journal Article
%T Accurate and Sensitive Analysis of Minimal Residual Disease in Acute Myeloid Leukemia Using Deep Sequencing of Single Nucleotide Variations
%A Anna Rehammar
%A Anne Tierens
%A Erik Delsing Malmberg
%A Erik Kristiansson
%A Jonas Abrahamsson
%A Julia Asp
%A Lars Palmqvist
%A Linda Fogelstrand
%A Mariana B. Pereira
%A Sara St£¿hlman
%A Tore Samuelsson
%J The Journal of Molecular Diagnostics
%D 2019
%R 10.1016/j.jmoldx.2018.08.004
%X Minimal residual disease (MRD) in acute myeloid leukemia (AML) is of major prognostic
importance. The genetic landscape of AML is characterized by numerous somatic mutations,
which constitute potential MRD markers. Leukemia-specific mutations can be identified
with exome sequencing at diagnosis and assessed during follow-up at low frequencies
by using targeted deep sequencing. Our aim was to further validate this patient-tailored
assay for substitution mutations. By applying a statistical model, which corrects
for position-specific errors, a limit of detection for single nucleotide variations
of variant allele frequency (VAF) of 0.02% was achieved.
%U https://jmd.amjpathol.org/article/S1525-1578(18)30050-3/fulltext