Transcriptome analysis of primary adult B-cell lineage acute lymphoblastic leukemia identifies pathogenic variants and gene fusions, and predicts subtypes for in depth molecular diagnosis.

ABSTRACT:

Background

B-cell acute lymphoblastic leukemia (B-ALL) is classified into subgroups based on known driver oncogenes and molecular lesions, including translocations and recurrent mutations. However, the current diagnostic tests do not identify subtypes or oncogenic lesions for all B-ALL samples, creating a heterogeneous B-ALL group of unknown subtypes.

Methods

We sorted primary adult B-ALL cells and performed transcriptome analysis by bulk RNA sequencing (RNA-seq).

Results

Transcriptomic analysis of an adult B-ALL cohort allowed the classification of four patient samples with subtypes that were not previously revealed by standard gene panels. The leukemia of two patients were of the DUX4 subtype and two were CRLF2⁺ Ph-like B-ALL. Furthermore, single nucleoti

SUBMITTER: Podgorica M 

PROVIDER: S-EPMC10990798 | biostudies-literature | 2024 May

REPOSITORIES: biostudies-literature