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A comparative study of next-generation sequencing and fragment analysis for the detection and allelic ratio determination of FLT3 internal tandem duplication
DC Field | Value | Language |
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dc.contributor.author | 신새암 | - |
dc.contributor.author | 이승재 | - |
dc.contributor.author | 이승태 | - |
dc.contributor.author | 김진주 | - |
dc.date.accessioned | 2022-03-11T06:19:10Z | - |
dc.date.available | 2022-03-11T06:19:10Z | - |
dc.date.issued | 2022-01 | - |
dc.identifier.uri | https://ir.ymlib.yonsei.ac.kr/handle/22282913/188033 | - |
dc.description.abstract | Background: Currently, FLT3 internal tandem duplication (ITD) is tested by fragment analysis. With next-generation sequencing (NGS), however, not only FLT3 ITD but also other mutations can be detected, which can provide more genetic information on disease. Methods: We retrospectively reviewed the results of two tests-fragment analysis and a custom-designed, hybridization capture-based, targeted NGS panel-performed simultaneously. We used the Pindel algorithm to detect FLT3 ITD mutations. Results: Among 277 bone marrow aspirate samples tested by NGS and fragment analysis, the results revealed 99.6% concordance in FLT3 ITD detection. Overall, the allele frequency (AF) attained by NGS positively correlated with the standard allelic ratio (AR) attained by fragment analysis, with a Spearman correlation coefficient (r) of 0.757 (95% confidence interval: 0.627-0.846; p < 0.001). It was concluded that an AF of 0.11 attained by NGS is the most appropriate cutoff value (with 85.3% sensitivity and 86.7% specificity) for high mutation burden criterion presented by guidelines. Conclusion: Sensitive FLT3 ITD detection with comprehensive information of other mutation offered by NGS could be a useful tool in clinical laboratories. Future studies will be needed to evaluate and standardize NGS AF cutoff to predict actual clinical outcomes. | - |
dc.description.statementOfResponsibility | open | - |
dc.format | application/pdf | - |
dc.language | English | - |
dc.publisher | BioMed Central | - |
dc.relation.isPartOf | DIAGNOSTIC PATHOLOGY | - |
dc.rights | CC BY-NC-ND 2.0 KR | - |
dc.title | A comparative study of next-generation sequencing and fragment analysis for the detection and allelic ratio determination of FLT3 internal tandem duplication | - |
dc.type | Article | - |
dc.contributor.college | College of Medicine (의과대학) | - |
dc.contributor.department | Dept. of Laboratory Medicine (진단검사의학교실) | - |
dc.contributor.googleauthor | Jin Ju Kim | - |
dc.contributor.googleauthor | Kwang Seob Lee | - |
dc.contributor.googleauthor | Taek Gyu Lee | - |
dc.contributor.googleauthor | Seungjae Lee | - |
dc.contributor.googleauthor | Saeam Shin | - |
dc.contributor.googleauthor | Seung-Tae Lee | - |
dc.identifier.doi | 10.1186/s13000-022-01202-x | - |
dc.contributor.localId | A02108 | - |
dc.contributor.localId | A06175 | - |
dc.contributor.localId | A04627 | - |
dc.relation.journalcode | J02909 | - |
dc.identifier.eissn | 1746-1596 | - |
dc.identifier.pmid | 35081962 | - |
dc.subject.keyword | Acute myeloid leukemia | - |
dc.subject.keyword | Allele ratio | - |
dc.subject.keyword | FLT3 internal tandem duplication | - |
dc.subject.keyword | Fragment analysis | - |
dc.contributor.alternativeName | Shin, Saeam | - |
dc.contributor.affiliatedAuthor | 신새암 | - |
dc.contributor.affiliatedAuthor | 이승재 | - |
dc.contributor.affiliatedAuthor | 이승태 | - |
dc.citation.volume | 17 | - |
dc.citation.number | 1 | - |
dc.citation.startPage | 14 | - |
dc.identifier.bibliographicCitation | DIAGNOSTIC PATHOLOGY, Vol.17(1) : 14, 2022-01 | - |
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