Detection and Quantification of FLT3 Internal Tandem Duplication Mutations Do Not Vary Significantly Between Whole Blood and Blast-Enriched Samples Article Swipe
Jonathan A. Schumacher
,
Victoria D Holgard
,
Faryal Sial
,
L. Pearson
,
Jay Patel
,
Kristin H. Karner
·
YOU?
·
· 2019
· Open Access
·
· DOI: https://doi.org/10.1093/ajcp/aqz166
YOU?
·
· 2019
· Open Access
·
· DOI: https://doi.org/10.1093/ajcp/aqz166
Objectives Many commonly used FLT3 mutational assay protocols require a tedious blast enrichment step. We investigated whether elimination of this step would still give equivalent results and compared the accuracy of variant allele fraction (VAF) between polymerase chain reaction/capillary electrophoresis (PCR/CE) vs next-generation sequencing (NGS) methods. Methods Total leukocyte vs blast-enriched whole-blood aliquots were tested for FLT3 internal tandem duplication (ITD) and tyrosine kinase domain mutations by PCR/CE. VAF of the ITD mutations was also compared with NGS VAF. Results Blast-enriched vs total leukocyte specimens showed 100% concordance in the 25 positive specimens. VAF was consistently lower by NGS, with poorer fidelity to PCR/CE VAF as the ITD size increased. Conclusions Our study supports elimination of the blast enrichment step without compromising results or sensitivity. In addition, since NGS shows a loose correlation with PCR/CE quantitative results, NGS VAF should not be reported for FLT3 ITDs.
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- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.1093/ajcp/aqz166
- https://academic.oup.com/ajcp/article-pdf/153/2/251/31675405/aqz166.pdf
- OA Status
- bronze
- Cited By
- 2
- References
- 22
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W2980984930
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
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https://openalex.org/W2980984930Canonical identifier for this work in OpenAlex
- DOI
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https://doi.org/10.1093/ajcp/aqz166Digital Object Identifier
- Title
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Detection and Quantification of FLT3 Internal Tandem Duplication Mutations Do Not Vary Significantly Between Whole Blood and Blast-Enriched SamplesWork title
- Type
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articleOpenAlex work type
- Language
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enPrimary language
- Publication year
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2019Year of publication
- Publication date
-
2019-09-05Full publication date if available
- Authors
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Jonathan A. Schumacher, Victoria D Holgard, Faryal Sial, L. Pearson, Jay Patel, Kristin H. KarnerList of authors in order
- Landing page
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https://doi.org/10.1093/ajcp/aqz166Publisher landing page
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https://academic.oup.com/ajcp/article-pdf/153/2/251/31675405/aqz166.pdfDirect link to full text PDF
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YesWhether a free full text is available
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bronzeOpen access status per OpenAlex
- OA URL
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https://academic.oup.com/ajcp/article-pdf/153/2/251/31675405/aqz166.pdfDirect OA link when available
- Concepts
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Biology, Polymerase chain reaction, Gene duplication, Microsatellite, Whole blood, Molecular biology, Concordance, Allele, Genetics, Gene, ImmunologyTop concepts (fields/topics) attached by OpenAlex
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2Total citation count in OpenAlex
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2024: 1, 2021: 1Per-year citation counts (last 5 years)
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10Other works algorithmically related by OpenAlex
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