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Tailored Digital PCR Follow-Up of Rare Fusion Transcripts after Initial Detection through RNA Sequencing in Hematological Malignancies.
- Source :
-
The Journal of molecular diagnostics : JMD [J Mol Diagn] 2024 Aug 31. Date of Electronic Publication: 2024 Aug 31. - Publication Year :
- 2024
- Publisher :
- Ahead of Print
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Abstract
- Minimal residual disease (MRD) monitoring plays a pivotal role in the management of hematologic malignancies. Well-established molecular targets, such as PML::RARA, CBFB::MYH11, or RUNX1::RUNX1T1, are conventionally tracked by quantitative RT-PCR. Recently, a broader landscape of fusion transcripts has been unveiled through transcriptomic analysis. These newly discovered fusion transcripts may emerge as novel molecular markers for MRD quantification. In this study, we compared a targeted RNA-sequencing (RNA-seq) approach (FusionPlex) with a whole-transcriptomic strategy (Advanta RNA-Seq XT) for fusion detection in a training set of 21 samples. We evidenced a concordance of 100% for the detection of known fusions, and showed a good correlation for gene expression quantification between the two techniques (Spearman r = 0.77). Additionally, we prospectively evaluated the identification of fusions by targeted RNA-seq in a real-life series of 126 patients with hematological malignancy. At least one fusion transcript was detected for 60 patients (48%). We designed tailored digital PCR assays for 11 rare fusions, and validated this technique for MRD quantification with a limit of detection of <0.01%. The combination of RNA-seq and tailored digital PCR may become a new standard for MRD evaluation in patients lacking conventional molecular targets.<br />Competing Interests: Disclosure Statement None declared.<br /> (Copyright © 2024 Association for Molecular Pathology and American Society for Investigative Pathology. Published by Elsevier Inc. All rights reserved.)
Details
- Language :
- English
- ISSN :
- 1943-7811
- Database :
- MEDLINE
- Journal :
- The Journal of molecular diagnostics : JMD
- Publication Type :
- Academic Journal
- Accession number :
- 39182671
- Full Text :
- https://doi.org/10.1016/j.jmoldx.2024.07.004