ALLSorts: an RNA-Seq subtype classifier for B-cell acute lymphoblastic leukemia

Schmidt, B; Brown, LM; Ryland, GL; Lonsdale, A; Kosasih, HJ; Ludlow, LE; Majewski, IJ; Blombery, P; Ekert, PG; Davidson, NM; Oshlack, A

Author(s): Schmidt, B; Brown, LM; Ryland, GL; Lonsdale, A; Kosasih, HJ; Ludlow, LE; Majewski, IJ; Blombery, P; Ekert, PG; Davidson, NM; Oshlack, A;
Details: Publication Year 2022-07-26,Volume 6,Issue #14,Page 4093-4097
Journal Title: Blood Advances
Abstract: B-cell acute lymphocytic leukemia (B-ALL) is the most common childhood malignancy and is a rare leukemia in adults.1-4 B-ALL subtypes are distinguished by characteristic structural variants and mutations, which can correlate with responses to treatment.2-5 Cytogenetic and genomic analyses combined with expression profiling have identified the existence of up to 23 subtypes.4,6 Subtype assignment can extend and refine the current standards of risk stratification, and current standard of care incorporates some molecular classification to identify patients at higher risk.7,8 For instance, detection of BCR-ABL1 (Philadelphia (Ph) chromosome) indicates high-risk disease, and treatment can be modified to include an ABL1-targeting tyrosine kinase inhibitor such as imatinib,3 and ETV6-RUNX1 fusions can indicate a lower risk of relapse.7-9 Next-generation sequencing of RNA (RNA-seq) has been used to identify fusion genes, quantify gene expression, and perform variant calling to identify driver mutations.9,10 Although gene expression quantification is particularly useful for identifying molecular subtypes, there is currently no publicly available software for subtype classification with RNA-seq.
Keywords: *Burkitt Lymphoma; Humans; *Precursor B-Cell Lymphoblastic Leukemia-Lymphoma/diagnosis/genetics; *Precursor Cell Lymphoblastic Leukemia-Lymphoma/diagnosis/genetics; RNA-Seq
Research Division(s): Blood Cells And Blood Cancer
PubMed ID: 35482550/
Publisher's Version: https://doi.org/10.1182/bloodadvances.2021005894
Open Access at Publisher's Site: https://doi.org/10.1182/bloodadvances.2021005894
Terms of Use/Rights Notice: Refer to copyright notice on published article.
Documents: Schmidt B_Blood Advances_2022.pdf - (1.29MB, application/pdf)

Creation Date: 2022-07-22 09:06:37

Last Modified: 2022-07-22 09:19:23