Insights into the biological features and improved diagnostics of adult acute myeloid leukemia via fusion genes identified through targeted next-generation sequencing.
1/5 보강
[BACKGROUND] Fusion genes play a crucial role in the pathogenesis of acute myeloid leukemia (AML).
APA
Guan W, Wang K, et al. (2026). Insights into the biological features and improved diagnostics of adult acute myeloid leukemia via fusion genes identified through targeted next-generation sequencing.. Cancer pathogenesis and therapy, 4(1), 64-71. https://doi.org/10.1016/j.cpt.2025.06.003
MLA
Guan W, et al.. "Insights into the biological features and improved diagnostics of adult acute myeloid leukemia via fusion genes identified through targeted next-generation sequencing.." Cancer pathogenesis and therapy, vol. 4, no. 1, 2026, pp. 64-71.
PMID
41446535 ↗
Abstract 한글 요약
[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, and rearrangements were enriched in refractory/relapsed patients. Additionally, recurrent fusion transcripts involving were observed. The identification of additional fusion genes resulted in an approximate 20.8% (11/53) reclassification of medium-risk karyotypes to the high-risk category, thereby enhancing diagnostic accuracy.
[CONCLUSIONS] Targeted NGS may complement conventional methods for identifying novel fusions in refractory/relapsed AML; however, its prognostic utility requires verification in controlled trials.
[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, and rearrangements were enriched in refractory/relapsed patients. Additionally, recurrent fusion transcripts involving were observed. The identification of additional fusion genes resulted in an approximate 20.8% (11/53) reclassification of medium-risk karyotypes to the high-risk category, thereby enhancing diagnostic accuracy.
[CONCLUSIONS] Targeted NGS may complement conventional methods for identifying novel fusions in refractory/relapsed AML; however, its prognostic utility requires verification in controlled trials.
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