ArticlePloS one2020
Assessment of the clinical utility of four NGS panels in myeloid malignancies. Suggestions for NGS panel choice or design.
Article in PloS one, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers, 1 of them a synthesis that pooled it.
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Who cites it
24 citing papers in PubMed, 1 synthesis or guideline pooled it, 46 citations in OpenAlex.
- Prevalence of Fms-Like Tyrosine Kinase 3 (FLT3) Mutations in Patients With Acute Myeloid Leukaemia: A Systematic Literature Review and Meta-Analysis.Cancer medicine · 2025Pooled it
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- Evaluation of the Idylla IDH1-2 Mutation Assay for the Detection ofInternational journal of molecular sciences · 2026Article
- How to Read a Next-Generation Sequencing Report for AML and MDS? What Hematologists Need to Know.Journal of clinical medicine · 2025Review
- Dynamics of Mutant Hematopoietic Progenitor Cells Are Not Associated with Clinical Outcomes in Multiple Myeloma.Blood cancer discovery · 2025Article
- Blast Transformation of Chronic Myeloid Leukemia Driven by Acquisition of t(8;21)(q22;q22)/Biomedicines · 2024Article
- An Approach to the Investigation of Thrombocytosis: Differentiating between Essential Thrombocythemia and Secondary Thrombocytosis.Advances in hematology · 2024Article
- Single-Cell DNA Sequencing and Immunophenotypic Profiling to Track Clonal Evolution in an Acute Myeloid Leukemia Patient.Biomedicines · 2023Article
- Reliability of flow-cytometry in diagnosis and prognostic stratification of myelodysplastic syndromes: correlations with morphology and mutational profile.Annals of hematology · 2023Article
- Germ line variants in patients with acute myeloid leukemia without a suspicion of hereditary hematologic malignancy syndrome.Blood advances · 2023Article
- Sporadic and Familial Acute Myeloid Leukemia with CEBPA Mutations.Current hematologic malignancy reports · 2023Review
- Article
- The transcription factor DDIT3 is a potential driver of dyserythropoiesis in myelodysplastic syndromes.Nature communications · 2022Article
- Prevalence and Prognostic Role of IDH Mutations in Acute Myeloid Leukemia: Results of the GIMEMA AML1516 Protocol.Cancers · 2022Article
- Technological Advances:Genes · 2022Article
- Article
- Significance of NPM1 Gene Mutations in AML.International journal of molecular sciences · 2021Review
- Multi-Gene Testing Overview with a Clinical Perspective in Metastatic Triple-Negative Breast Cancer.International journal of molecular sciences · 2021Review
- The potential of proliferative and apoptotic parameters in clinical flow cytometry of myeloid malignancies.Blood advances · 2021Review
- The Contemporary Approach to CALR-Positive Myeloproliferative Neoplasms.International journal of molecular sciences · 2021Review
Corrections and comments
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Authors and funding
14 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The diagnosis of myeloid neoplasms (MN) has significantly evolved through the last few decades. Next Generation Sequencing (NGS) is gradually becoming an essential tool to help clinicians with disease management. To this end, most specialized genetic laboratories have implemented NGS panels targeting a number of different genes relevant to MN. The aim of the present study is to evaluate the performance of four different targeted NGS gene panels based on their technical features and clinical utility. A total of 32 patient bone marrow samples were accrued and sequenced with 3 commercially available panels and 1 custom panel. Variants were classified by two geneticists based on their clinical relevance in MN. There was a difference in panel's depth of coverage. We found 11 discordant clinically relevant variants between panels, with a trend to miss long insertions. Our data show that there is a high risk of finding different mutations depending on the panel of choice, due both to the panel design and the data analysis method. Of note, CEBPA, CALR and FLT3 genes, remains challenging the use of NGS for diagnosis of MN in compliance with current guidelines. Therefore, conventional molecular testing might need to be kept in place for the correct diagnosis of MN for now.
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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.