EP053: Detection of rare and novel fusions in pediatric B-Lymphoblastic Leukemia (B-ALL) by capture-based transcriptome sequencing (RNA-Seq)

Abstract

Numerous newly recognized clinically significant genetic markers in B-lymphoblastic leukemia (B-ALL) that are being incorporated into the next edition of the World Health Organization (WHO) classification cannot be detected by routine karyotype and fluorescence in situ hybridization (FISH) analyses. For example, EPOR and CRLF2 rearrangements associated with the BCR-ABL1 (Philadelphia)-like subtype of B-ALL and abnormalities which define DUX4-upregulated subtype of the disease, remain undetected by standard cytogenetic evaluation.