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Development and validation of sensitive BCR::ABL1 fusion gene quantitation using next-generation sequencing
DC Field | Value | Language |
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dc.contributor.author | 신새암 | - |
dc.contributor.author | 이승태 | - |
dc.contributor.author | 최종락 | - |
dc.date.accessioned | 2023-07-25T04:52:02Z | - |
dc.date.available | 2023-07-25T04:52:02Z | - |
dc.date.issued | 2023-05 | - |
dc.identifier.uri | https://ir.ymlib.yonsei.ac.kr/handle/22282913/195574 | - |
dc.description.abstract | Background: BCR::ABL1 fusion has significant prognostic value and is screened for chronic myeloid leukemia (CML) disease monitoring as a part of routine molecular testing. To overcome the limitations of the current standard real-time quantitative polymerase chain reaction (RQ-PCR), we designed and validated a next-generation sequencing (NGS)-based assay to quantify BCR::ABL1 and ABL1 transcript copy numbers. Methods: After PCR amplification of the target sequence, deep sequencing was performed using an Illumina Nextseq 550Dx sequencer and in-house-designed bioinformatics pipeline. The Next-generation Quantitative sequencing (NQ-seq) assay was validated for its analytical performance, including precision, linearity, and limit of detection, using serially diluted control materials. A comparison with conventional RQ-PCR was performed with 145 clinical samples from 77 patients. Results: The limit of detection of the NQ-seq was the molecular response (MR) 5.6 [BCR::ABL1 0.00028% international scale (IS)]. The NQ-seq exhibited excellent precision and linear range from MR 2.0 to 5.0. The IS value from the NQ-seq was highly correlated with conventional RQ-PCR. Conclusions: We conclude that the NQ-seq is an effective tool for monitoring BCR::ABL1 transcripts in CML patients with high sensitivity and reliability. Prospective assessment of the unselected large series is required to validate the clinical impact of this NGS-based monitoring strategy. | - |
dc.description.statementOfResponsibility | open | - |
dc.language | English | - |
dc.publisher | BioMed Central | - |
dc.relation.isPartOf | CANCER CELL INTERNATIONAL | - |
dc.rights | CC BY-NC-ND 2.0 KR | - |
dc.title | Development and validation of sensitive BCR::ABL1 fusion gene quantitation using next-generation sequencing | - |
dc.type | Article | - |
dc.contributor.college | College of Medicine (의과대학) | - |
dc.contributor.department | Dept. of Laboratory Medicine (진단검사의학교실) | - |
dc.contributor.googleauthor | Hyeonah Lee | - |
dc.contributor.googleauthor | Jieun Seo | - |
dc.contributor.googleauthor | Saeam Shin | - |
dc.contributor.googleauthor | Seung-Tae Lee | - |
dc.contributor.googleauthor | Jong Rak Choi | - |
dc.identifier.doi | 10.1186/s12935-023-02938-2 | - |
dc.contributor.localId | A02108 | - |
dc.contributor.localId | A04627 | - |
dc.contributor.localId | A04182 | - |
dc.relation.journalcode | J00436 | - |
dc.identifier.eissn | 1475-2867 | - |
dc.identifier.pmid | 37248544 | - |
dc.subject.keyword | BCR:ABL1 | - |
dc.subject.keyword | Chronic myeloid leukemia | - |
dc.subject.keyword | Fusion gene | - |
dc.subject.keyword | Next-generation sequencing | - |
dc.subject.keyword | Quantification | - |
dc.contributor.alternativeName | Shin, Saeam | - |
dc.contributor.affiliatedAuthor | 신새암 | - |
dc.contributor.affiliatedAuthor | 이승태 | - |
dc.contributor.affiliatedAuthor | 최종락 | - |
dc.citation.volume | 23 | - |
dc.citation.number | 1 | - |
dc.citation.startPage | 106 | - |
dc.identifier.bibliographicCitation | CANCER CELL INTERNATIONAL, Vol.23(1) : 106, 2023-05 | - |
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