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Črepinšek, Klementina; Klobučar, Nika; Tesovnik, Tine; Šket, Robert; Jenko Bizjan, Barbara; Kovač, Jernej; Kavčič, Marko; Prelog, Tomaž; Kitanovski, Lidija; Jazbec, Janez; Debeljak, Maruša
Cancers, 03/2024, Letnik: 16, Številka: 6Journal Article
In this study, we aimed to identify patients within our B-ALL cohort with altered . Our objective was to use a comprehensive analysis approach to characterize the types of genetic changes, determine their origin (somatic/germline), and analyze the clinical outcomes associated with them. A consecutive cohort of 99 patients with B-ALL treated at the Children's Hospital of the UMC Ljubljana according to the ALL IC-BFM 2009 protocol was included in our study. We used RNA sequencing data for gene expression analysis, fusion gene detection and single nucleotide variant identification, multiplex-ligation dependent probe amplification for copy number variation assessment, and Sanger sequencing for germline variant detection. was impacted in 33.3% of our patients, with the genetic alterations ranging from CNVs and rearrangements to SNVs. The most common were CNVs, which were found in more than a third of patients, followed by point mutations in 5.2%, and gene rearrangements in 4.1%. We identified eight patients with a -associated genetic subtype that were previously classified as "B-other", and they showed intermediate outcomes. We showed higher minimal residual disease values at the end of induction and poorer event-free survival in hyperdiploid cases carrying duplications in compared to other hyperdiploid cases. We also report an interesting case of a patient with and a pathogenic variant in who underwent an early relapse with a monocytic switch. In conclusion, this study provides valuable insights into the presence, frequency, and prognostic significance of diverse alterations in B-ALL patients, highlighting the complexity of genetic factors and their impact on patient outcomes.
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JCR | SNIP | JCR | SNIP | JCR | SNIP | JCR | SNIP |
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in: SICRIS
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