NGS-MRD Panel Is “Highly Sensitive, Accurate” in AML

A study regarding next-generation sequencing evaluated minimal residual disease in patients with acute myeloid leukemia.

Korean researchers have developed a next-generation sequencing (NGS) panel for measuring MRD in patients with acute myeloid leukemia (AML) that they say is highly sensitive, accurate, could be applied in clinical practice to about 78% of AML patients with somatic mutations identified at diagnosis, and could detect clones emerging during relapse early, thus improving prognoses. The study is published in the July issue of Annals of Laboratory Medicine.

The researchers used the panel to retrospectively sequence 54 cryopreserved bone marrow or peripheral blood samples from 23 patients diagnosed with AML at Yonsei University Severance Hospital in Seoul, South Korea, between January 2018 and March 2020. Based on the most recent 4 years of data on diagnostic panel testing in their institution’s internal database, they selected 24 genes for the panel.

Twenty patients (excluding 3 lost to follow-up) were evaluated after a mean follow-up period of 945.1 days. MRD positivity was associated with poor outcomes, with median progression-free and overall survival of 26.7 and 21.3 months, respectively, for MRD-positive patients compared with 41.3 and 38.1 months, respectively for those who were MRD negative.

“The test reproducibly detected MRD in three dilution series samples, with a sensitivity of 0.25% for single-nucleotide variants. More than half of samples from patients with morphologic remission after one month of chemotherapy had detectable mutations,” the authors, led by June-Won Cheong, MD, PhD, and Saeam Shin, MD, PhD, wrote. Limitations of the study include a relatively small sample size and the selection of panel genes based on data from a single institution, they wrote.

Reference

Kim JJ, Jang JE, Lee HA, et al. Development of a Next-generation Sequencing-based Gene Panel Test to Detect Measurable Residual Disease in Acute Myeloid Leukemia. Ann Lab Med. 2023;43(4):328-336. doi:10.3343/alm.2023.43.4.328