ArticleCancers2020
Digital Droplet PCR is a Specific and Sensitive Tool for Detecting IDH2 Mutations in Acute Myeloid LeuKemia Patients.
Article in Cancers, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed, 34 citations in OpenAlex.
- Development and Broad Application of a Double Drop-Off ddPCR Assay for Simultaneous Detection of FourCancers · 2026Article
- Prevalence, detection, and clinical implications of BRAF V600E and NRAS Q61R mutations in multiple myeloma BM-FFPE tissues using digital droplet PCR.Medical oncology (Northwood, London, England) · 2025Article
- The Validation of Digital PCR-Based Minimal Residual Disease Detection for the Common Mutations in IDH1 and IDH2 Genes in Patients with Acute Myeloid Leukemia.The Journal of molecular diagnostics : JMD · 2025Article
- A new digital droplet PCR method for looking at epigenetics in diffuse large B-cell lymphomas: The role of BMI1, EZH2, and USP22 genes.International journal of laboratory hematology · 2025Article
- The clinical utility and prognostic value of next-generation sequencing for measurable residual disease assessment in acute myeloid leukemia.Therapeutic advances in hematology · 2025Article
- 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
- Minimal residual disease detection by mutation-specific droplet digital PCR for leukemia/lymphoma.International journal of hematology · 2023Article
- Liquid biopsies and minimal residual disease in myeloid malignancies.Frontiers in oncology · 2023Review
- Next-generation sequencing for MRD monitoring in B-lineage malignancies: from bench to bedside.Experimental hematology & oncology · 2022Review
- Application of precision medicine in clinical routine in haematology-Challenges and opportunities.Journal of internal medicine · 2022Review
- Digital Droplet PCR in Hematologic Malignancies: A New Useful Molecular Tool.Diagnostics (Basel, Switzerland) · 2022Review
- Review
- Revealing the Mysteries of Acute Myeloid Leukemia: From Quantitative PCR through Next-Generation Sequencing and Systemic Metabolomic Profiling.Journal of clinical medicine · 2022Review
- Peripheral blood marker of residual acute leukemia after hematopoietic cell transplantation using multi-plex digital droplet PCR.Frontiers in immunology · 2022Article
- Review
- Molecular Testing in CML between Old and New Methods: Are We at a Turning Point?Journal of clinical medicine · 2020Review
- MRD Tailored Therapy in AML: What We Have Learned So Far.Frontiers in oncology · 2020Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
16 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Isocitrate dehydrogenase 1 and 2 (IDH1 and IDH2) interfere with cellular metabolism contributing to oncogenesis. Mutations of IDH2 at R140 and R172 residues are observed in 20% of acute myeloid leukemias (AML), and the availability of the IDH2 inhibitor Enasidenib made IDH2 mutational screening a clinical need. The aim of this study was to set a new quantitative polymerase chain reaction (PCR) technique, the drop-off digital droplet PCR (drop-off ddPCR), as a sensitive and accurate tool for detecting IDH2 mutations. With this technique we tested 60 AML patients. Sanger sequencing identified 8/60 (13.5%) mutated cases, while ddPCR and the amplification refractory mutation system (ARMS) PCR, used as a reference technique, identified mutations in 13/60 (21.6%) cases. When the outcome of IDH2-mutated was compared to that of wild-type patients, no significant difference in terms of quality of response, overall survival, or progression-free survival was observed. Finally, we monitored IDH2 mutations during follow-up in nine cases, finding that IDH2 can be considered a valid marker of minimal residual disease (MRD) in 2/3 of our patients. In conclusion, a rapid screening of IDH2 mutations is now a clinical need well satisfied by ddPCR, but the role of IDH2 as a marker for MRD still remains a matter of debate.
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Registered trials
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