Crystal digital droplet PCR for detection and quantification of circulating EGFR sensitizing and resistance mutations in advanced non-small cell lung cancer

Jovelet, Cécile; Madic, Jordan; Remón, Jordi; Honoré, Aurélie; Girard, Romain; Rouleau, Étienne; André, Barbara; Besse, Benjamin; Droniou, Magali; Lacroix, Ludovic

doi:10.1371/journal.pone.0183319

Cited by 28 publications

(17 citation statements)

References 24 publications

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“…In patients with acquired EGFR tyrosine kinase inhibitor (TKI)–resistant NSCLC, a rise of primary EGFR-mutated DNA occurred simultaneously with the detection of new mutations in the plasma in the majority of the tested patients during treatment [ 28 , 38 , 41 , 51 ]. Detection of the therapy-resistant T790M mutation during treatment is suggestive for disease progression and a worse OS [ 26 , 34 , 36 , 42 , 45 , 49 ].…”

Section: Search Strategy and Quality Of Included Studiesmentioning

confidence: 99%

Clinical utility of circulating tumor DNA as a response and follow-up marker in cancer therapy

Boonstra

Wind

Kruchten

et al. 2020

Cancer Metastasis Rev

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Response evaluation for cancer treatment consists primarily of clinical and radiological assessments. In addition, a limited number of serum biomarkers that assess treatment response are available for a small subset of malignancies. Through recent technological innovations, new methods for measuring tumor burden and treatment response are becoming available. By utilization of highly sensitive techniques, tumor-specific mutations in circulating DNA can be detected and circulating tumor DNA (ctDNA) can be quantified. These so-called liquid biopsies provide both molecular information about the genomic composition of the tumor and opportunities to evaluate tumor response during therapy. Quantification of tumor-specific mutations in plasma correlates well with tumor burden. Moreover, with liquid biopsies, it is also possible to detect mutations causing secondary resistance during treatment. This review focuses on the clinical utility of ctDNA as a response and follow-up marker in patients with non-small cell lung cancer, melanoma, colorectal cancer, and breast cancer. Relevant studies were retrieved from a literature search using PubMed database. An overview of the available literature is provided and the relevance of ctDNA as a response marker in anti-cancer therapy for clinical practice is discussed. We conclude that the use of plasma-derived ctDNA is a promising tool for treatment decision-making based on predictive testing, detection of resistance mechanisms, and monitoring tumor response. Necessary steps for translation to daily practice and future perspectives are discussed.

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Section: Search Strategy and Quality Of Included Studiesmentioning

confidence: 99%

Clinical utility of circulating tumor DNA as a response and follow-up marker in cancer therapy

Boonstra

Wind

Kruchten

et al. 2020

Cancer Metastasis Rev

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“…La combinaison de la génération d'un grand nombre de gouttelettes afin de n'avoir qu'une copie par gouttelette, éliminant ainsi la possibilité de multiples signaux dans une gouttelette, avec un nombre accru de canaux de fluorescence, pourrait théoriquement permettre une augmentation de la capacité de multiplexage de PCRd. [35,36] x EGFR : T790M (∼60 %) Résistance acquise au ITK (erlotinib, afatinib, gefinib) sensibilité à l'osimertinib [37,38] x EGFR : C797S (∼40 %) Résistance à l'osimertinib [38] x ALK fusion (3-7 %) ROS1 fusion (∼1 %)…”

Section: Analyse De La Méthylation De L'adnunclassified

“…LCR pourraient aussi être explorées, en particulier dans les cas où la biopsie est récusée. Enfin, afin d'illustrer la grande flexibilité offerte par la Dans le cadre du cancer du poumon non à petites cellules (CPNPC) localement avancé ou métastatique[35,36,41,42], l'une rechercher ces mutations dans les tissus (notamment si la fréquence allélique est faible ou que l'ADN est dégradé) mais avec certaines difficultés qui sont propres à cette technologie Ceci ouvre la perspective de pouvoir adapter les stratégies thérapeutiques « en temps réel » ou du moins plus rapidement que sur la base des cinétiques de marqueurs tumoraux classiques ou de l'imagerie. Jiwa et al ont montré que cette mutation est détectable dans 85 % des cas sur biopsie liquide, ce qui pourrait permettre de proposer une méthode alternative à la biopsie cérébrale[86].…”

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Development of molecular analyzes by digital PCR for clinical practice: positioning, current applications and perspectives

Denis¹,

Perrier

Nectoux

et al. 2019

Annales De Biologie Clinique

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This review is the second part of the workshop on digital PCR (dPCR) proposed by the working group of the French society of clinical biology. The first part of the paper discusses the advantages and limitations of dPCR for the search of different molecular abnormalities such as point mutations, copy number variants, DNA methylation, RNA analysis and a more innovative application, the single-cell dPCR. This synthesis makes it possible to propose a positioning of the dPCR compared to the other available technologies in a medical laboratory. In a second part, the main current applications of the dPCR will be addressed including the oncology of solid tumors and liquid biopsies, oncohematology and the follow-up of hemopathies treatments by hematopoietic stem cell transplantation. We will also detail non-invasive prenatal diagnosis and diagnosis of mosaic genetic disease, using the example of McCune-Albright syndrome. Several French specialists in the field who have implemented these

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“…It is above all essential because there are quite small amount of ctDNA circulating in the blood [23]. For that reason, amplification of interested region can considerably recover the weak points of ctDNA detection methods [24]. Unfortunately, PCR a an amplification tool can launch some known errors which will pass to the sequencing step [25].…”

Section: Introductionmentioning

confidence: 99%

Circulating tumor DNA (ctDNA) in the era of personalized cancer therapy

Khatami

Tavangar

2018

J Diabetes Metab Disord

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The heterogeneity of tumor is considered as a major difficulty to victorious personalized cancer medicine. There is an extremeneed of consistent response evaluation for in vivo tumor heterogeneity anditscoupledconflict mechanisms. In this occasion researchers will be able to keep pace withpredictive, preventive, personalized, and Participatory (P4) medicine for cancer managements. In fact tumor heterogeneity is a central part of cancer evolution,soin order to progress in understanding of the dynamics within a tumor some diagnostic apparatus should be improved. Latest molecular techniques like Next generation Sequencing (NGS) and ultra-deep sequencing could disclose some clones within a liquid tumor biopsy which mainly responsible of treatment resistance. Circulating tumor DNA (ctDNA) as a main component of liquid biopsy is agifted biomarker for cancer mutation tracking as well as profiling. Personalized medicine facilitate learning regarding to genetic pools of tumor and their possible respond to treatment which could be much easier by using of ctDNA.With this information, cliniciansarelooking forward to find the best strategies for prevention, screening, and treatment in the way of precision medicine. Currently, numerous clinical efficacy of such informative improved treatment are in hand. Here we represent the review of plasma-derived ctDNA studies use in personalized cancer managements.

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Crystal digital droplet PCR for detection and quantification of circulating EGFR sensitizing and resistance mutations in advanced non-small cell lung cancer

Cited by 28 publications

References 24 publications

Clinical utility of circulating tumor DNA as a response and follow-up marker in cancer therapy

Clinical utility of circulating tumor DNA as a response and follow-up marker in cancer therapy

Development of molecular analyzes by digital PCR for clinical practice: positioning, current applications and perspectives

Circulating tumor DNA (ctDNA) in the era of personalized cancer therapy

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