| Autor: |
Boulland, Marie-Laure, Aliouat, Amyra, Jalaber, Elie, Desmares, Anne, Toujani, Saloua, Luque Paz, Damien, Wiber, Margaux, Voirin, Emeline, Lachot, Sébastien, Basinko, Audrey, Lambert, Wayne-Corentin, Carras, Sylvain, Cousin, Elie, Marchand, Tony, de Tayrac, Marie, Fest, Thierry, Houot, Roch, Pastoret, Cédric |
| Zdroj: |
The Journal of Molecular Diagnostics; November 2024, Vol. 26 Issue: 11 p1007-1017, 11p |
| Abstrakt: |
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. |
| Databáze: |
Supplemental Index |
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