ArticleThe Journal of molecular diagnostics : JMD2011
Diagnostic testing for IDH1 and IDH2 variants in acute myeloid leukemia an algorithmic approach using high-resolution melting curve analysis.
Article in The Journal of molecular diagnostics : JMD, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers.
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Who cites it
30 citing papers in PubMed.
- Trial
- Ultra-Sensitive Mutation Detection Technology in Myeloid Neoplasms: New Tools for Patient Monitoring.Journal of clinical medicine · 2026Review
- Detection of IDH1, IDH2, and NPM1 Mutations in Acute Myeloid Leukemia by High-Resolution Melting Analysis in Comparison with Direct Sequencing and MRD Detection.Journal of blood medicine · 2026Article
- Feasible and Rapid Screening ofDiagnostics (Basel, Switzerland) · 2025Article
- Diagnostics ofDiagnostics (Basel, Switzerland) · 2024Article
- Germline mutations among Polish patients with acute myeloid leukemia.Hereditary cancer in clinical practice · 2021Article
- Myelodysplastic syndrome with t(6;9)(p22;q34.1)/DEK-NUP214 better classified as acute myeloid leukemia? A multicenter study of 107 cases.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2021Article
- EGFRvIII expression and isocitrate dehydrogenase mutations in patients with glioma.Oncology letters · 2020Article
- Assessment of the clinical utility of four NGS panels in myeloid malignancies. Suggestions for NGS panel choice or design.PloS one · 2020Article
- Allogeneic Hematopoietic Cell Transplantation Outcomes in Patients Carrying Isocitrate Dehydrogenase Mutations.Clinical lymphoma, myeloma & leukemia · 2019Article
- Ivosidenib: IDH1 Inhibitor for the Treatment of Acute Myeloid Leukemia.Journal of the advanced practitioner in oncology · 2019Article
- Review
- Secondary Philadelphia chromosome acquired during therapy of acute leukemia and myelodysplastic syndrome.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2018Article
- Isocitrate dehydrogenase mutations in myeloid malignancies.Leukemia · 2017Review
- Mutation Analysis of Isocitrate Dehydrogenase (IDH1/2) and DNA Methyltransferase 3A (DNMT3A) in Thai Patients with Newly Diagnosed Acute Myeloid LeukemiaAsian Pacific journal of cancer prevention : APJCP · 2017Article
- S-2-hydroxyglutarate regulates CD8Nature · 2016Article
- A novel truncated form ofOncology letters · 2016Article
- BET inhibitor OTX015 targets BRD2 and BRD4 and decreases c-MYC in acute leukemia cells.Oncotarget · 2015Article
- Recurrent 12q13-15 chromosomal aberrations, high frequency of isocitrate dehydrogenase 1 mutations, and absence of high mobility group AT-hook 2 expression in periosteal chondromas.Oncology letters · 2015Article
- HMGA2 expression pattern and TERT mutations in tumors of the vulva.Oncology reports · 2015Article
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Authors and funding
7 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Isocitrate dehydrogenase 1 (IDH1) and IDH2 mutations and polymorphism are reported in 5% to 15% of acute myeloid leukemia (AML) cases, with G105 and R132 of IDH1 and R140 and R172 of IDH2 known to be clinically significant. Current Sanger sequencing assays to detect IDH mutations are labor intensive and not cost effective for clinical testing of low-frequency mutations. Therefore, we developed clinical assays using high-resolution melting (HRM) analysis to screen for all four variants listed above, followed by Sanger sequencing confirmation. The sensitivities of the assays were 7.3% and 7.9% for the detection of IDH2 and IDH1 variants, respectively, against the background of wild-type transcripts. Comparison of HRM to Sanger sequencing on 146 AML bone marrow samples for validation showed near-perfect concordance for all positive and negative results for IDH1 (98%) and IDH2 (94%). Postvalidation clinical implementation of upfront HRM screening (N = 106), using a more conservative algorithm to avoid false-negative results, reduced the number of Sanger sequencing tests by 73% (IDH1) and 78% (IDH2). Of the variant calls made by HRM in postvalidation clinical samples, Sanger confirmed the presence of a variant in 62% (IDH1) and 44% (IDH2) of the samples. In conclusion, our HRM assays are rapid, convenient, and versatile assays for screening and confirmation of alterations in IDH1 and IDH2.
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