The Validation of Digital PCR-Based Minimal Residual Disease Detection for the Common Mutations in IDH1 and IDH2 Genes in Patients with Acute Myeloid Leukemia.

Autor:	Di J; Department of Pathology and Laboratory Medicine, University of Kentucky HealthCare, University of Kentucky, Lexington, Kentucky., Sheng T; Department of Pathology and Laboratory Medicine, University of Kentucky HealthCare, University of Kentucky, Lexington, Kentucky., Arora R; Pathology and Cytology Laboratories Inc., Lexington, Kentucky., Stocks-Candelaria J; Department of Pathology and Laboratory Medicine, University of Kentucky HealthCare, University of Kentucky, Lexington, Kentucky., Wei S; Department of Pathology and Laboratory Medicine, University of Kentucky HealthCare, University of Kentucky, Lexington, Kentucky., Lutz C; Department of Pathology and Laboratory Medicine, University of Kentucky HealthCare, University of Kentucky, Lexington, Kentucky., Yalniz FF; Division of Hematology, Department of Internal Medicine, University of Kentucky HealthCare, University of Kentucky, Lexington, Kentucky., Zhang S; Department of Pathology and Laboratory Medicine, University of Kentucky HealthCare, University of Kentucky, Lexington, Kentucky. Electronic address: shulin.zhang@uky.edu.
Jazyk:	angličtina
Zdroj:	The Journal of molecular diagnostics : JMD [J Mol Diagn] 2024 Nov 29. Date of Electronic Publication: 2024 Nov 29.
DOI:	10.1016/j.jmoldx.2024.11.002
Abstrakt:	Accurate monitoring of minimal residual disease (MRD) is crucial for effective management of patients with acute myeloid leukemia (AML). This study aims to validate MRD detection of the seven most common IDH1 and IDH2 mutations in patients with AML using a QuantStudio 3D digital PCR platform. This assay demonstrated a high concordance for the variant allele frequencies between digital PCR and next-generation sequencing assays. Precision analysis revealed only small variation (<0.5 log10) for all mutations near or at the limit of detection level. This validation also showed a great reproducibility for interrun and intrarun comparisons (28 runs, variation ranges from 0 to 0.48 log10), ensuring comparable results for patient follow-ups. The limit of detection was determined to be 0.1% for all mutations, except the IDH2 R140Q mutation, which was 0.5%. Controls and acceptable ranges were also established for each mutation during validation. This study suggests that the QuantStudio 3D digital PCR assay is a quantitative, sensitive, and reproducible platform for monitoring MRD in patients with AML. Competing Interests: Disclosure Statement The authors are previous or current employees of University of Kentucky HealthCare genomics laboratory. This laboratory is a fee-for-service diagnostics laboratory using the platform in this study. (Copyright © 2024 Association for Molecular Pathology and American Society for Investigative Pathology. Published by Elsevier Inc. All rights reserved.)
Databáze:	MEDLINE
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