| Autor: |
Hoffmeister, Lina Marie, Suttorp, Julia, Walter, Christiane, Antoniou, Evangelia, Behrens, Yvonne Lisa, Göhring, Gudrun, Awada, Amani, von Neuhoff, Nils, Reinhardt, Dirk, Schneider, Markus |
| Zdroj: |
Leukemia; March 2024, Vol. 38 Issue: 3 p538-544, 7p |
| Abstrakt: |
New methods like panel-based RNA fusion sequencing (RNA-FS) promise improved diagnostics in various malignancies. We here analyzed the impact of RNA-FS on the initial diagnostics of 241 cases with pediatric acute myeloid leukemia (AML). We show that, compared to classical cytogenetics (CCG), RNA-FS reliably detected risk-relevant fusion genes in pediatric AML. In addition, RNA-FS strongly improved the detection of cryptic fusion genes like NUP98::NSD1, KMT2A::MLLT10and CBFA2T3::GLIS2and thereby resulted in an improved risk stratification in 25 patients (10.4%). Validation of additionally detected non-risk-relevant high confidence fusion calls identified PIM3::BRD1, C22orf34::BRD1, PSPC1::ZMYM2and ARHGAP26::NR3C1as common genetic variants and MYB::GATA1as recurrent aberration, which we here describe in AML subtypes M0 and M7 for the first time. However, it failed to detect rare cytogenetically confirmed fusion events like MNX1::ETV6and other chromosome 12p-abnormalities. As add-on benefit, the proportion of patients for whom measurable residual disease (MRD) monitoring became possible was increased by RNA-FS from 44.4 to 75.5% as the information on the fusion transcripts’ sequence allowed the design of new MRD assays. |
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