ArticleLeukemia2024
Panel-based RNA fusion sequencing improves diagnostics of pediatric acute myeloid leukemia.
Article in Leukemia, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 13 citations in OpenAlex.
- Detection of Fusion Genes Using RNA Sequencing in Acute Leukemia.Annals of laboratory medicine · 2026Article
- The molecular landscape of the C1498 murine acute myeloid leukemia cell line.Biomarker research · 2026Article
- Hypoplastic acute myeloid leukemia with aberrant lymphoid antigen expression andTherapeutic advances in hematology · 2026Article
- Case Report: CBFA2T3::GLIS2-positive myeloid sarcoma with focal bone marrow involvement mimicking Ewing sarcoma in an infant.Frontiers in oncology · 2026Article
- Prognostic Value of Molecular Genetic Measurable Residual Disease (MRD) Monitoring in Pediatric Acute Myeloid Leukemia Expressing KMT2A::MLLT10.European journal of haematology · 2025Article
- Unveiling the Genetic Mosaic of Pediatric AML: Insights from Southwest China.Current oncology (Toronto, Ont.) · 2025Article
- Review
- Review
- No evidence of leukaemia (NEL) as a response criteria in paediatric AML: a multicentre analysis.EClinicalMedicine · 2025Article
- Characterization of fusion transcripts in AML without recurrent genetic abnormalities unravels new putative fusion genes.Blood neoplasia · 2025Article
- CrypticGenes · 2025Article
- Application of RNA-Based Next-Generation Sequencing Fusion Assay for Hematological Malignancies.International journal of molecular sciences · 2025Article
- Paraspeckle Component 1: a multifunctional RNA binding protein.American journal of cancer research · 2025Review
- Molecular techniques in haematopathology: what and how?Histopathology · 2025Review
- Application of droplet digital PCR in minimal residual disease monitoring of rare fusion transcripts and mutations in haematological malignancies.Scientific reports · 2024Article
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Authors and funding
10 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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::MLLT10 and CBFA2T3::GLIS2 and 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::ZMYM2 and ARHGAP26::NR3C1 as common genetic variants and MYB::GATA1 as 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::ETV6 and 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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