RaScALL: Rapid (Ra) screening (Sc) of RNA-seq data for prognostically significant genomic alterations in acute lymphoblastic leukaemia (ALL)

PLoS Genet. 2022 Oct 17;18(10):e1010300. doi: 10.1371/journal.pgen.1010300. eCollection 2022 Oct.

Abstract

RNA-sequencing (RNA-seq) efforts in acute lymphoblastic leukaemia (ALL) have identified numerous prognostically significant genomic alterations which can guide diagnostic risk stratification and treatment choices when detected early. However, integrating RNA-seq in a clinical setting requires rapid detection and accurate reporting of clinically relevant alterations. Here we present RaScALL, an implementation of the k-mer based variant detection tool km, capable of identifying more than 100 prognostically significant lesions observed in ALL, including gene fusions, single nucleotide variants and focal gene deletions. We compared genomic alterations detected by RaScALL and those reported by alignment-based de novo variant detection tools in a study cohort of 180 Australian patient samples. Results were validated using 100 patient samples from a published North American cohort. RaScALL demonstrated a high degree of accuracy for reporting subtype defining genomic alterations. Gene fusions, including difficult to detect fusions involving EPOR and DUX4, were accurately identified in 98% of reported cases in the study cohort (n = 164) and 95% of samples (n = 63) in the validation cohort. Pathogenic sequence variants were correctly identified in 75% of tested samples, including all cases involving subtype defining variants PAX5 p.P80R (n = 12) and IKZF1 p.N159Y (n = 4). Intragenic IKZF1 deletions resulting in aberrant transcript isoforms were also detectable with 98% accuracy. Importantly, the median analysis time for detection of all targeted alterations averaged 22 minutes per sample, significantly shorter than standard alignment-based approaches. The application of RaScALL enables rapid identification and reporting of previously identified genomic alterations of known clinical relevance.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Australia
  • Genomics / methods
  • Humans
  • Precursor Cell Lymphoblastic Leukemia-Lymphoma* / diagnosis
  • Precursor Cell Lymphoblastic Leukemia-Lymphoma* / genetics
  • RNA*
  • RNA-Seq

Substances

  • RNA

Grants and funding

This work was supported by funding from the Australian Genomics Health Alliance (AGHA) (1113531 to DLW), Beat Cancer (DLW, www.cancersa.org.au), and the Leukaemia Foundation (DLW, www.leukaemia.org.au). DLW is an NHMRC R.D. Wright II Fellow (1160833) and a Beat Cancer Principal Research Fellow. DTY is an NHMRC Early Career Fellow (1146253). SLH is The Kids’ Cancer Project Fellow (www.thekidscancerproject.org.au). LNE is the Peter Nelson Leukaemia Research Fellow (www.cancersa.org.au). JR and CM were supported by funding from the Australian Research Training Program (RTP). The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.