Minimal residual disease monitoring via AML1-ETO breakpoint tracing in childhood acute myeloid leukemia

Chen, Xiaoyan; Zong, Suyu; Yi, Meihui; Liu, Chao; Wang, Bingrui; Duan, Yongjuan; Cheng, Xuelian; Ruan, Min; Zhang, Li; Zou, Yao; Chen, Yumei; Yang, Wenyu; Guo, Ye; Hu, Tianyuan; Cheng, Tao; Zhu, Xiaofan; Zhang, Yingchi

doi:10.1016/j.tranon.2021.101119

Cited by 5 publications

(2 citation statements)

References 20 publications

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“…ddPCR uses thousands of droplets, each containing a single-DNA molecule to partition the sample and amplify the target DNA. This method has high precision and accuracy compared to other methods [163][164][165] and can be used to measure MRD for a variety of targets in acute leukemias and MDS [166][167][168][169]. ddPCR is a relatively new method, and its clinical utility for MRD measurement is still being evaluated.…”

Section: Can Provide Additional Genetic Informationmentioning

confidence: 99%

Novel precision medicine approaches and treatment strategies in hematological malignancies

et al. 2023

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Genetic testing has been applied for decades in clinical routine diagnostics of hematological malignancies to improve disease (sub)classification, prognostication, patient management, and survival. In recent classifications of hematological malignancies, disease subtypes are defined by key recurrent genetic alterations detected by conventional methods (i.e., cytogenetics, fluorescence in situ hybridization, and targeted sequencing). Hematological malignancies were also one of the first disease areas in which targeted therapies were introduced, the prime example being BCR::ABL1 inhibitors, followed by an increasing number of targeted inhibitors hitting the Achilles’ heel of each disease, resulting in a clear patient benefit. Owing to the technical advances in high‐throughput sequencing, we can now apply broad genomic tests, including comprehensive gene panels or whole‐genome and whole‐transcriptome sequencing, to identify clinically important diagnostic, prognostic, and predictive markers. In this review, we give examples of how precision diagnostics has been implemented to guide treatment selection and improve survival in myeloid (myelodysplastic syndromes and acute myeloid leukemia) and lymphoid malignancies (acute lymphoblastic leukemia, diffuse large B‐cell lymphoma, and chronic lymphocytic leukemia). We discuss the relevance and potential of monitoring measurable residual disease using ultra‐sensitive techniques to assess therapy response and detect early relapses. Finally, we bring up the promising avenue of functional precision medicine, combining ex vivo drug screening with various omics technologies, to provide novel treatment options for patients with advanced disease. Although we are only in the beginning of the field of precision hematology, we foresee rapid development with new types of diagnostics and treatment strategies becoming available to the benefit of our patients.

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Section: Can Provide Additional Genetic Informationmentioning

confidence: 99%

Novel precision medicine approaches and treatment strategies in hematological malignancies

et al. 2023

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“…In another work, ddPCR for RUNX1-RUNX1T1 rearrangement was used for MRD assessment in children affected by AML with t(8;21) and compared with flow cytometry and QT-PCR: the flow cytometry lost MRD in 21% of samples (positive by QT-PCR), and ddPCR resulted superior to QT-PCR in one quarter of cases. Finally, in 8 patients with disease progression, the fusion gene was detected by ddPCR but not by QT-PCR before hematological relapse [ 36 ].…”

Section: Ddpcr Applications In Hematologymentioning

confidence: 99%

Digital Droplet PCR in Hematologic Malignancies: A New Useful Molecular Tool

et al. 2022

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Digital droplet PCR (ddPCR) is a recent version of quantitative PCR (QT-PCR), useful for measuring gene expression, doing clonality assays and detecting hot spot mutations. In respect of QT-PCR, ddPCR is more sensitive, does not need any reference curve and can quantify one quarter of samples already defined as “positive but not quantifiable”. In the IgH and TCR clonality assessment, ddPCR recapitulates the allele-specific oligonucleotide PCR (ASO-PCR), being not adapt for detecting clonal evolution, that, on the contrary, does not represent a pitfall for the next generation sequencing (NGS) technique. Differently from NGS, ddPCR is not able to sequence the whole gene, but it is useful, cheaper, and less time-consuming when hot spot mutations are the targets, such as occurs with IDH1, IDH2, NPM1 in acute leukemias or T315I mutation in Philadelphia-positive leukemias or JAK2 in chronic myeloproliferative neoplasms. Further versions of ddPCR, that combine different primers/probes fluorescences and concentrations, allow measuring up to four targets in the same PCR reaction, sparing material, time, and money. ddPCR is also useful for quantitating BCR-ABL1 fusion gene, WT1 expression, donor chimerism, and minimal residual disease, so helping physicians to realize that “patient-tailored therapy” that is the aim of the modern hematology.

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Melatonin promotes differentiation and apoptosis of AML1-ETO-positive cells

Liu¹,

Sun²,

Wang³

et al. 2023

Bulletin du Cancer

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Minimal residual disease monitoring via AML1-ETO breakpoint tracing in childhood acute myeloid leukemia

Abstract: Highlights Performed DNA-based ddPCR to accurately monitor the MRD of AE (+) AML. Identified quantification of the fusion gene correlates strongly with clinical prognosis.

Cited by 5 publications

References 20 publications

Novel precision medicine approaches and treatment strategies in hematological malignancies

Novel precision medicine approaches and treatment strategies in hematological malignancies

Digital Droplet PCR in Hematologic Malignancies: A New Useful Molecular Tool

Melatonin promotes differentiation and apoptosis of AML1-ETO-positive cells

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