A list of 302 genes that encompass all exons.
<div><p>Background</p><p>Targeted Next-Generation Sequencing (tNGS) is commonly used to detect genetic mutations in patients with leukemia on DNA-level, necessitating additional methods to confirm genomic rearrangements and gene fusions, resulting in a substantial sample volu...
محفوظ في:
| المؤلف الرئيسي: | |
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| مؤلفون آخرون: | , , , , |
| منشور في: |
2025
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| الموضوعات: | |
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إضافة وسم
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| الملخص: | <div><p>Background</p><p>Targeted Next-Generation Sequencing (tNGS) is commonly used to detect genetic mutations in patients with leukemia on DNA-level, necessitating additional methods to confirm genomic rearrangements and gene fusions, resulting in a substantial sample volume requirement and significant labor expenses.</p><p>Methods</p><p>A novel custom leukemia tNGS panel, independently developed by Sino-US Diagnostics Lab, includes all exons from 302 genes closely associated with leukemia and 95 introns from 26 genes, thereby facilitating the detection of gene fusion alterations on DNA-level. Additionally, the common breakpoint regions of <i>IGH</i> and <i>MYC</i> are employed for the detection of <i>IGH</i> or <i>MYC</i> rearrangements. Commercial quantitative reverse transcription polymerase chain reaction (qRT-PCR) reagents were used simultaneously to detect 45 gene fusions in RNA samples. A total of 357 adults diagnosed with leukemia were included in the study.</p><p>Results</p><p>The qRT-PCR method detected a total of 102 gene fusions, encompassing 23 distinct types. The tNGS method identified the same gene fusions on DNA-level in 98 samples, achieving a Positive Percent Agreement (PPA) of 96.1% (98/102) when compared to the qRT-PCR method, and no false positive findings. Additionally, it revealed the presence of two gene fusions, <i>KMT2A</i>::<i>ELL</i> and <i>KMT2A</i>::<i>MLLT3</i>, which had gone undetected by qRT-PCR. The tNGS can also identify <i>IGH</i> or <i>MYC</i> gene rearrangements in patients with B-ALL, achieving a PPA of 93.8% (15/16) when compared to the FISH. Moreover, tNGS can accurately identify the specific partner genes associated with these rearrangements, facilitating a more precise analysis of the impact of mutations on prognosis.</p><p>Conclusion</p><p>This study confirms the feasibility of employing tNGS methods to concurrently identify gene mutations and fusions (including <i>IGH</i> and <i>MYC</i> rearrangements) at the DNA level in adults with leukemia.</p></div> |
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