Monitoring of clonal evolution of double C-KIT exon 17 mutations by Droplet Digital PCR in patients with core-binding factor acute myeloid leukemia

Tan, Yanhong; Liu, Zhuang; Wang, Wenjun; Zhu, Guiyang; Guo, Jing; Chen, Xiuhua; Zheng, Chunhua; Xu, Zhifang; Chang, Jianmei; Ren, Fanggang; Wang, Hongwei

doi:10.1016/j.leukres.2018.04.013

Cited by 12 publications

(12 citation statements)

References 20 publications

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“…Recently, detection of KITmut by droplet digital PCR (ddPCR) technology has been developed. 33 The presence of KIT-D816, even with its low variant allele frequency (VAF), can potentially be quickly screened by this methodology. Furthermore, our usage of intermediate-dose Ara-C at the late stage (on day 5-7) of regimen schedule gives us ample opportunity to make appropriate dosage adjustment for this patient subsets.…”

Section: Discussionmentioning

confidence: 99%

Role of CD19 and specific KIT‐D816 on risk stratification refinement in t(8;21) acute myeloid leukemia induced with different cytarabine intensities

et al. 2020

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Section: Discussionmentioning

confidence: 99%

Role of CD19 and specific KIT‐D816 on risk stratification refinement in t(8;21) acute myeloid leukemia induced with different cytarabine intensities

et al. 2020

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“…On the other hand, dPCR has been considered as a complementary or even alternative method. In the hematological scenario, dPCR has already been employed for detection of hotspot mutations in many genes, such as JAK2 [19], IDH1/IDH2 [63,64], MYD88 [65], B-RAF [18,66], and c-KIT [67]. Each dPCR assay enables the detection of a given mutation by using specific primers and probes.…”

Section: Bcr-abl1 Mutation Testingmentioning

confidence: 99%

Molecular Testing in CML between Old and New Methods: Are We at a Turning Point?

Soverini

Bernardi

Galimberti

2020

JCM

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Molecular monitoring of minimal residual disease (MRD) and BCR-ABL1 kinase domain (KD) mutation testing have a well consolidated role in the routine management of chronic myeloid leukemia (CML) patients, as they provide precious information for therapeutic decision-making. Molecular response levels are used to define whether a patient has an “optimal”, “warning”, or “failure” response to tyrosine kinase inhibitor (TKI) therapy. Mutation status may be useful to decide whether TKI therapy should be changed and which alternative TKI (or TKIs) are most likely to be effective. Real-time quantitative polymerase chain reaction (RQ-qPCR) and Sanger sequencing are currently the gold standard for molecular response monitoring and mutation testing, respectively. However, in recent years, novel technologies such as digital PCR (dPCR) and next-generation sequencing (NGS) have been evaluated. Here, we critically describe the main features of these old and novel technologies, provide an overview of the recently published studies assessing the potential clinical value of dPCR and NGS, and discuss how the state of the art might evolve in the next years.

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“…Although we still lack solid data generated by qPCR on the prognostic significance of the mutation burden of c-KIT , an attempt to study the dynamic of the mutated clone has been done by Tan and colleagues [50]. They investigated the dynamic evolution of CBF-AML clones with C-KIT mutations by ddPCR combined with sequencing [50]. The study included 75 patients with CBF-AML, 19% of them with double C-KIT mutation.…”

Section: Monitoring C-kit Exon 17 Mutations By Droplet Digital Pcrmentioning

confidence: 99%

Digital PCR in Myeloid Malignancies: Ready to Replace Quantitative PCR?

Cilloni

Petiti

Rosso

et al. 2019

IJMS

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New techniques are on the horizon for the detection of small leukemic clones in both, acute leukemias and myeloproliferative disorders. A promising approach is based on digital polymerase chain reaction (PCR). Digital PCR (dPCR) is a breakthrough technology designed to provide absolute nucleic acid quantification. It is particularly useful to detect a low amount of target and therefore it represents an alternative method for detecting measurable residual disease (MRD). The main advantages are the high precision, the very reliable quantification, the absolute quantification without the need for a standard curve, and the excellent reproducibility. Nowadays the main disadvantages of this strategy are the costs that are still higher than standard qPCR, the lack of standardized methods, and the limited number of laboratories that are equipped with instruments for dPCR. Several studies describing the possibility and advantages of using digital PCR for the detection of specific leukemic transcripts or mutations have already been published. In this review we summarize the available data on the use of dPCR in acute myeloid leukemia and myeloproliferative disorders.

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Monitoring of clonal evolution of double C-KIT exon 17 mutations by Droplet Digital PCR in patients with core-binding factor acute myeloid leukemia

Cited by 12 publications

References 20 publications

Role of CD19 and specific KIT‐D816 on risk stratification refinement in t(8;21) acute myeloid leukemia induced with different cytarabine intensities

Role of CD19 and specific KIT‐D816 on risk stratification refinement in t(8;21) acute myeloid leukemia induced with different cytarabine intensities

Molecular Testing in CML between Old and New Methods: Are We at a Turning Point?

Digital PCR in Myeloid Malignancies: Ready to Replace Quantitative PCR?

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