ArticleThe Journal of molecular diagnostics : JMD2017
Minimal Residual Disease Monitoring of Acute Myeloid Leukemia by Massively Multiplex Digital PCR in Patients with NPM1 Mutations.
Article in The Journal of molecular diagnostics : JMD, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 42 papers.
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Who cites it
42 citing papers in PubMed, 75 citations in OpenAlex.
- Optimization of Analytical Performances and Routine Laboratory Implementation of NPM1 Mutation Detection by Digital PCR in the Diagnosis and Monitoring of NPM1 -Mutated Acute Myeloid Leukemias.International journal of laboratory hematology · 2026Article
- Analytical validation of a modified wild-type blocker qpcr assay for the sensitive DNA-based detection of NPM1 type A in acute myeloid leukemia.Molecular biology reports · 2026Article
- A Simple and Fast Protocol to Detect Nucleophosmin 1 (Methods and protocols · 2026Article
- Molecular measurable residual disease monitoring and transplant indications in NPM1 mutated acute myeloid leukemia.Bone marrow transplantation · 2025Review
- Detection methods and prognosis implications of measurable residual disease in acute myeloid leukemia.Annals of hematology · 2024Review
- SJPedPanel: A Pan-Cancer Gene Panel for Childhood Malignancies to Enhance Cancer Monitoring and Early Detection.Clinical cancer research : an official journal of the American Association for Cancer Research · 2024Article
- Application of droplet digital PCR in minimal residual disease monitoring of rare fusion transcripts and mutations in haematological malignancies.Scientific reports · 2024Article
- Minimal Residual Disease in Acute Myeloid Leukemia: Old and New Concepts.International journal of molecular sciences · 2024Review
- Criteria for Diagnosis and Molecular Monitoring of NPM1-Mutated AML.Blood cancer discovery · 2024Review
- Persistent Molecular Disease in Adult Patients With AML Evaluated With Whole-Exome and Targeted Error-Corrected DNA Sequencing.JCO precision oncology · 2023Article
- Current and Emerging Techniques for Diagnosis and MRD Detection in AML: A Comprehensive Narrative Review.Cancers · 2023Review
- Digital Droplet PCR in Hematologic Malignancies: A New Useful Molecular Tool.Diagnostics (Basel, Switzerland) · 2022Review
- Allogeneic TCRαβ deficient CAR T-cells targeting CD123 in acute myeloid leukemia.Nature communications · 2022Article
- Prevention and Treatment of Acute Myeloid Leukemia Relapse after Hematopoietic Stem Cell Transplantation: The State of the Art and Future Perspectives.Journal of clinical medicine · 2022Review
- Review
- Significance of NPM1 Gene Mutations in AML.International journal of molecular sciences · 2021Review
- Prognostic and therapeutic implications of measurable residual disease in acute myeloid leukemia.Journal of hematology & oncology · 2021Review
- Molecular study of Nucleophosmin 1(NPM1) gene in acute myeloid leukemia in Kurdish population.African health sciences · 2021Article
- Article
- Nucleophosmin1 and isocitrate dehydrogenase 1 and 2 as measurable residual disease markers in acute myeloid leukemia.PloS one · 2021Article
Corrections and comments
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Authors and funding
11 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The presence of minimal residual disease (MRD) is widely recognized as a powerful predictor of therapeutic outcome in acute myeloid leukemia (AML), but methods of measurement and quantification of MRD in AML are not yet standardized in clinical practice. There is an urgent, unmet need for robust and sensitive assays that can be readily adopted as real-time tools for disease monitoring. NPM1 frameshift mutations are an established MRD marker present in half of patients with cytogenetically normal AML. However, detection is complicated by the existence of hundreds of potential frameshift insertions, clonal heterogeneity, and absence of sequence information when the NPM1 mutation is identified using capillary electrophoresis. Thus, some patients are ineligible for NPM1 MRD monitoring. Furthermore, a subset of patients with NPM1-mutated AML will have false-negative MRD results because of clonal evolution. To simplify and improve MRD testing for NPM1, we present a novel digital PCR technique composed of massively multiplex pools of insertion-specific primers that selectively detect mutated but not wild-type NPM1. By measuring reaction end points using digital PCR technology, the resulting single assay enables sensitive and specific quantification of most NPM1 exon 12 mutations in a manner that is robust to clonal heterogeneity, does not require NPM1 sequence information, and obviates the need for maintenance of hundreds of type-specific assays and associated plasmid standards.
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