Insights into the biological features and improved diagnostics of adult acute myeloid leukemia via fusion genes identified through targeted next-generation sequencing.

ABSTRACT:

Background

Fusion genes play a crucial role in the pathogenesis of acute myeloid leukemia (AML). This study investigated the utility of targeted next-generation sequencing (NGS) of RNA for detecting rare and unknown fusion genes in patients with AML.

Methods

A total of 85 adult AML samples previously identified as fusion gene-negative by multiplex nested reverse transcription-polymerase chain reaction (RT-PCR) were subjected to NGS analysis.

Results

Fusion genes were detected in 21 of 72 (29.2%) patients. Among the 26 primary refractory patients, 11 (42.3%) exhibited fusion genes, whereas among the 18 relapsed patients, fusion genes were identified in five (27.8%). Notably, KMT2A and NUP98 rearrangements were enriched in refractory/relapsed patients. Add

SUBMITTER: Guan W 

PROVIDER: S-EPMC12723017 | biostudies-literature | 2026 Jan

REPOSITORIES: biostudies-literature