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Evaluation of two new highly multiplexed PCR assays as an alternative to next-generation sequencing for IDH1/2 mutation detection.
Mol Oncol
December 2022
Univ Paris Est Creteil, INSERM, IMRB, France.
Article Synopsis
- IDH1 and IDH2 mutations are linked to various cancers, prompting the need for efficient detection methods to identify patients suitable for targeted treatments.
- This study compares two multiplexed PCR assays: automated qPCR and droplet digital PCR (ddPCR), focusing on their effectiveness in identifying IDH1/2 mutations from patient samples.
- Results showed that ddPCR outperformed qPCR, achieving 100% sensitivity and specificity while providing a lower detection limit, making it a promising option for clinical application in monitoring cancer patients undergoing anti-IDH1/2 therapies.
Background: Isocitrate dehydrogenase (IDH) is an appealing target for anticancer therapy, and IDH (IDH1/2) inhibitors have been approved for targeted therapy of acute myeloid leukemia (AML) and Cholangiocarcinoma. The therapeutic potential of IDH inhibitors for non-small-cell lung cancer (NSCLC) patients is under active clinical investigation. Thus, it would be necessary and meaningful to study the molecular and clinical characteristics of IDH mutation in NSCLC patients, especially in the Chinese population.
View Article and Find Full Text PDF(2,3)-Dihydroxybutanoic Acid Synthesis as a Novel Metabolic Function of Mutant Isocitrate Dehydrogenase 1 and 2 in Acute Myeloid Leukemia.
Cancers (Basel)
October 2020
Arthur G. Zupko's Systems Pharmacology and Pharmacogenomics, Arnold and Marie Schwartz College of Pharmacy and Health Sciences, Long Island University, Brooklyn, NY 11201-5423, USA.
Acute myeloid leukemia (AML) frequently harbors mutations in isocitrate 1 () and 2 () genes, leading to the formation of the oncometabolite (2)-hydroxyglutaric acid (2R-HG) with epigenetic consequences for AML proliferation and differentiation. To investigate if broad metabolic aberrations may result from and mutations in AML, plasma metabolomics was conducted by gas chromatography-mass spectrometry (GC-MS) on 51 AML patients, 29 / wild-type (WT), 9 with IDH1R132, 12 with IDH2R140 and one with IDH2R172 mutations. Distinct metabolic differences were observed between IDH1/2 WT, and patients that comprised 22 plasma metabolites that were mainly amino acids.
View Article and Find Full Text PDFIDH1R132, IDH2R140 and IDH2R172 in AML: different genetic landscapes correlate with outcome and may influence targeted treatment strategies.
Leukemia
May 2018
MLL Munich Leukemia Laboratory, Munich, Germany.
Clinical relevance of mutant allele burden during follow-up in acute myeloid leukemia. A study by the French ALFA group.
Haematologica
May 2018
Hematology Laboratory, Biology and Pathology Center, CHRU of Lille, France
Assessment of minimal residual disease has emerged as a powerful prognostic factor in acute myeloid leukemia. In this study, we investigated the potential of mutations as targets for minimal residual disease assessment in acute myeloid leukemia, since these mutations collectively occur in 15-20% of cases of acute myeloid leukemia and now represent druggable targets. We employed droplet digital polymerase chain reaction assays to quantify , , and mutations on genomic DNA in 322 samples from 103 adult patients with primary mutant acute myeloid leukemia and enrolled on Acute Leukemia French Association (ALFA) - 0701 or -0702 clinical trials.
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