A novel deep targeted sequencing method for minimal residual disease monitoring in acute myeloid leukemia

HAEMATOLOGICA — 2019 

Onecha E., et al.

This study validated a deep targeted sequencing method for AML MRD monitoring, showing that sequencing-determined MRD positivity was associated with inferior disease-free and overall survival. 

Topics

Hematologic malignancies · AML · MRD · TRACKseq

Expanded summary

This article introduced and validated a high-throughput targeted NGS method for MRD assessment in acute myeloid leukemia using mutations such as NPM1, IDH1/2 and FLT3 as molecular biomarkers. The clinical validation included 106 follow-up samples from 63 AML patients in complete remission.

The sequencing workflow achieved a sensitivity of 10⁻⁴ for single nucleotide variants and 10⁻⁵ for insertions/deletions. MRD-positive status by sequencing was associated with worse disease-free survival and overall survival, and multivariate analysis showed sequencing-based MRD to be an independent factor for relapse and death risk.

This paper is highly relevant for Altum’s AML positioning because it demonstrates how NGS-based MRD can complement or improve upon conventional MRD approaches such as flow cytometry and qPCR, while expanding applicability across genetically diverse AML patients. 

View article: https://doi.org/10.3324/haematol.2018.194712