{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,5]],"date-time":"2026-07-05T00:29:38Z","timestamp":1783211378901,"version":"3.54.6"},"reference-count":47,"publisher":"Public Library of Science (PLoS)","issue":"10","license":[{"start":{"date-parts":[[2025,10,9]],"date-time":"2025-10-09T00:00:00Z","timestamp":1759968000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Key Research and Development Program of Tianjin","award":["25YFKFYS00360"],"award-info":[{"award-number":["25YFKFYS00360"]}]}],"content-domain":{"domain":["www.plosone.org"],"crossmark-restriction":false},"short-container-title":["PLoS One"],"abstract":"\nBackground<\/jats:title>\nTargeted 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.<\/jats:p>\n<\/jats:sec>\n\nMethods<\/jats:title>\nA 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 IGH<\/jats:italic> and MYC<\/jats:italic> are employed for the detection of IGH<\/jats:italic> or MYC<\/jats:italic> 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.<\/jats:p>\n<\/jats:sec>\n\nResults<\/jats:title>\nThe 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, KMT2A<\/jats:italic>::ELL<\/jats:italic> and KMT2A<\/jats:italic>::MLLT3<\/jats:italic>, which had gone undetected by qRT-PCR. The tNGS can also identify IGH<\/jats:italic> or MYC<\/jats:italic> 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.<\/jats:p>\n<\/jats:sec>\n\nConclusion<\/jats:title>\nThis study confirms the feasibility of employing tNGS methods to concurrently identify gene mutations and fusions (including IGH<\/jats:italic> and MYC<\/jats:italic> rearrangements) at the DNA level in adults with leukemia.<\/jats:p>\n<\/jats:sec>","DOI":"10.1371\/journal.pone.0332407","type":"journal-article","created":{"date-parts":[[2025,10,9]],"date-time":"2025-10-09T17:37:35Z","timestamp":1760031455000},"page":"e0332407","update-policy":"https:\/\/doi.org\/10.1371\/journal.pone.corrections_policy","source":"Crossref","is-referenced-by-count":2,"title":["Detection of leukemia gene fusions on DNA-level through targeted Next-Generation 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