Rapid Identification of <i>DUX4::IGH</i> Fusion in Acute Lymphoblastic Leukemia.

ABSTRACT:

Introduction

DUX4 is rearranged and overexpressed in a subgroup of acute lymphoblastic leukemia (ALL) with B-precursor phenotype, with a favorable outcome. Even though characteristic gene expression signature as well as surface expression of CD2/CD371 could be a hallmark of DUX4-rearranged ALL, actual detection of DUX4 rearrangement is, however, largely dependent on whole transcriptome analysis due to the highly repetitive nature of DUX4 gene loci and insertion as the main mechanism of fusion gene formation.

Methods

Polymerase chain reactions (PCRs) with several combinations of multiplex primers located on DUX4 and IGH gene loci were used for the detection of DUX4::IGH, which represents more than 90% of DUX4 fusion.

SUBMITTER: Moritani K 

PROVIDER: S-EPMC12304430 | biostudies-literature | 2025 Aug

REPOSITORIES: biostudies-literature