ArticleThe Journal of molecular diagnostics : JMD2020
Targeted Informatics for Optimal Detection, Characterization, and Quantification of FLT3 Internal Tandem Duplications Across Multiple Next-Generation Sequencing Platforms.
Article in The Journal of molecular diagnostics : JMD, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 30 citations in OpenAlex.
- CPX-351 selectively benefits patients with AML and myelodysplasia-related mutations in the pivotal randomized trial.Blood advances · 2026Trial
- Metformin for treatment of cytopenias in children and young adults with Fanconi anemia.Blood advances · 2022Trial
- Investigating the oncogenic role of aberrant EZH2 in hepatoblastoma.Scientific reports · 2026Article
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- An innovative full-size pathogenic tandem duplication mutation precise detection system based on next-generation sequencing.Experimental biology and medicine (Maywood, N.J.) · 2025Article
- The Clinical Utility ofCurrent oncology (Toronto, Ont.) · 2023Article
- Allogeneic Hematopoietic Cell Transplantation Improves Outcome in Myelodysplastic Syndrome Across High-Risk Genetic Subgroups: Genetic Analysis of the Blood and Marrow Transplant Clinical Trials Network 1102 Study.Journal of clinical oncology : official journal of the American Society of Clinical Oncology · 2023Article
- FLT3-ITD does not predict inferior prognosis in acute myeloid leukemia patients aged ≥60 years.Blood advances · 2023Article
- Current clinical practices and challenges in molecular testing: a GOAL Consortium Hematopathology Working Group report.Blood advances · 2023Article
- Clonal hematopoiesis in older patients with breast cancer receiving chemotherapy.Journal of the National Cancer Institute · 2023Article
- ITDetect: a method to detect internal tandem duplication of FMS-like tyrosine kinase (FLT3) from next-generation sequencing data with high sensitivity and clinical application.BMC bioinformatics · 2023Article
- Article
- Frugal alignment-free identification of FLT3-internal tandem duplications with FiLT3r.BMC bioinformatics · 2022Article
- Role of Biomarkers in FLT3 AML.Cancers · 2022Review
- A comparative study of next-generation sequencing and fragment analysis for the detection and allelic ratio determination of FLT3 internal tandem duplication.Diagnostic pathology · 2022Article
- Accurate Detection and Quantification of FLT3 Internal Tandem Duplications in Clinical Hybrid Capture Next-Generation Sequencing Data.The Journal of molecular diagnostics : JMD · 2021Article
Corrections and comments
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Authors and funding
15 authors at 3 institutions in 1 country.
Funding
Abstract
Assessment of internal tandem duplications in FLT3 (FLT3-ITDs) and their allelic ratio (AR) is recommended by clinical guidelines for diagnostic workup of acute myeloid leukemia and traditionally performed through capillary electrophoresis (CE). Although significant progress has been made integrating FLT3-ITD detection within contemporary next-generation sequencing (NGS) panels, AR estimation is not routinely part of clinical NGS practice because of inherent biases and challenges. In this study, data from multiple NGS platforms-anchored multiplex PCR (AMP), amplicon [TruSeq Custom Amplicon (TSCA)], and hybrid-capture-were analyzed through a custom algorithm, including platform-specific measures of AR. Sensitivity and specificity of NGS for FLT3-ITD status relative to CE were 100% (42/42) and 99.4% (1076/1083), respectively, by AMP on an unselected cohort and 98.1% (53/54) and 100% (48/48), respectively, by TSCA on a selected cohort. Primer analysis identified criteria for ITDs to escape detection by TSCA, estimated to occur in approximately 9% of unselected ITDs. Allelic fractions under AMP or TSCA were highly correlated to CE, with linear regression slopes near 1 for ITDs not duplicating primers, and systematically underestimated for ITDs duplicating a primer. Bias was alleviated in AMP through simple adjustments. This article provides an approach for targeted computational FLT3-ITD analysis for NGS data from multiple platforms; AMP was found capable of near perfect sensitivity and specificity with relatively accurate estimates of ARs.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.