ArticleBritish journal of haematology2025
RNA-sequencing: A reliable tool to unveil transcriptional landscape of paediatric B-other acute lymphoblastic leukaemia.
Article in British journal of haematology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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Who cites it
3 citing papers in PubMed.
- RNA Sequencing Technologies in Acute Lymphoblastic Leukemia: A Comparative Technical Review.Current issues in molecular biology · 2026Review
- A Decade of Transformation in the Management of Childhood Acute Lymphoblastic Leukemia: From Conventional Chemotherapy to Precision Medicine.Pediatric reports · 2025Review
- RNA-sequencing: A reliable tool to unveil transcriptional landscape of paediatric B-other acute lymphoblastic leukaemia.British journal of haematology · 2025Article
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Authors and funding
13 authors.
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Abstract
B-cell precursor acute lymphoblastic leukaemia (BCP-ALL) comprises multiple subtypes characterized by different genetic alterations. With the use of current standard-of-care tests used in clinical practice, 20%-30% of the cases may not be classified into the main genetic subtypes and additional approaches are needed. These patients are grouped in the heterogeneous category B-other ALL. Transcriptome sequencing (RNA-seq) has allowed the identification of novel fusion genes and gene expression profiles that define new molecular subtypes. We present RNA-seq results integrated, in a real-world scenario, with clinical routine diagnostic data to identify new biomarkers and reclassify a cohort of 60 B-other ALL patients in the newly described genetic subtypes. Overall, 49 rearrangements were identified, including 32 different fusion genes in 41 B-other patients (68%). Moreover, we reported six novel rearrangements (IGK::PAX5, PAX5::IL1RAPL1, ETV6::KRT78, IGH::HIC1, IGH::MIR100HG and NKAIN4::PNPLA7). The integration of RNA-seq results with standard-of-care data allowed us to classify 72% of the patients (43/60) in 11 different subtypes, being DUX4 rearranged and PAX5alt the most represented subtypes. In summary, RNA-seq is a reliable tool for the identification of new emerging genetic subtypes contributing to a better genetic risk stratification of BCP-ALL paediatric patients on the path towards a more personalized medicine.
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