1. Real-World Clinical Utility of Targeted RNA Sequencing in Leukemia Diagnosis and Management.
- Author
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Kim, Seo Wan, Kim, Namsoo, Choi, Yu Jeong, Lee, Seung-Tae, Choi, Jong Rak, and Shin, Saeam
- Subjects
LEUKEMIA diagnosis ,RNA analysis ,LEUKEMIA genetics ,MEDICAL protocols ,RESEARCH funding ,REVERSE transcriptase polymerase chain reaction ,CHROMOSOME abnormalities ,CANCER patients ,DECISION making in clinical medicine ,LEUKEMIA ,KARYOTYPES ,MESSENGER RNA ,ONCOGENES ,GENE expression profiling ,GENETIC mutation ,COMPARATIVE studies ,MOLECULAR pathology ,MOLECULAR diagnosis - Abstract
Simple Summary: This study explores the detection of gene fusions in acute leukemia using targeted RNA sequencing and compares its effectiveness with traditional methods like karyotyping and RT-PCR. Gene fusions, which result from chromosomal rearrangements, are crucial for diagnosing and treating leukemia. Recent updates in diagnostic criteria emphasize the importance of identifying these gene fusions. Targeted RNA sequencing offers advantages such as rapid diagnosis, minimal training requirements, and cost-effectiveness, making it a practical method in clinical settings. Our findings suggest that targeted RNA sequencing can accurately identify gene fusions, potentially benefiting nearly half of leukemia patients and improving diagnostic precision. This method may significantly impact the research community by providing a reliable and efficient tool for leukemia diagnosis. Gene fusions are key drivers in acute leukemia, impacting diagnosis and treatment decisions. We analyzed 264 leukemia patients using targeted RNA sequencing with conventional karyotyping and reverse transcription polymerase chain reaction (RT-PCR). Leukemic fusions were detected in 127 patients (48.1%). The new guidelines introduced additional diagnostic criteria, expanding the spectrum of gene fusions. We discovered three novel fusions (RUNX1::DOPEY2, RUNX1::MACROD2, and ZCCHC7::LRP1B). We analyzed recurrent breakpoints for the KMT2A and NUP98 rearrangements. Targeted RNA sequencing showed consistent results with RT-PCR in all tested samples. However, when compared to conventional karyotyping, we observed an 83.3% concordance rate, with 29 cases found only in targeted RNA sequencing, 7 cases with discordant results, and 5 cases found only in conventional karyotyping. For the five cases where known leukemic gene rearrangements were suspected only in conventional karyotyping, we conducted additional messenger RNA sequencing in four cases and proved no pathogenic gene rearrangements. Targeted RNA sequencing proved advantageous for the rapid and accurate interpretation of gene rearrangements. The concurrent use of multiple methods was essential for a comprehensive evaluation. Comprehensive molecular analysis enhances our understanding of leukemia's genetic basis, aiding diagnosis and classification. Advanced molecular techniques improve clinical decision-making, offering potential benefits. [ABSTRACT FROM AUTHOR]
- Published
- 2024
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