Current and Emerging Applications of Droplet Digital PCR in Oncology: An Updated Review

Olmedillas‐López, Susana; Olivera, Rocío; García-Arranz, Mariano; Garcı́a-Olmo, Damián

doi:10.1007/s40291-021-00562-2

Cited by 61 publications

(37 citation statements)

References 251 publications

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“…We used a validated, high-resolution spatial–temporal interpolation method to assess daily PM 2.5 exposures during pregnancy, which has been used in several studies [ 5 , 66 , 67 ] and was validated for gestational exposures and accumulation of nanoparticles in placental tissue [ 67 ]. To determine the MT-ND4L 10550A>G SNP, we used Droplet Digital PCR allowing the detection of low-level mutations by partitioning the PCR mixture into approximately 20,000 droplets, causing it to have superior sensitivity and accuracy compared to other methods [ 68 ]. We used DLMs to simultaneously represent linear exposure–response dependencies and delayed effects, allowing us to model weekly exposures of pregnancy to residential airborne particulate matter.…”

Section: Discussionmentioning

confidence: 99%

In utero particulate matter exposure in association with newborn mitochondrial ND4L10550A>G heteroplasmy and its role in overweight during early childhood

et al. 2022

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Background Mitochondria play an important role in the energy metabolism and are susceptible to environmental pollution. Prenatal air pollution exposure has been linked with childhood obesity. Placental mtDNA mutations have been associated with prenatal particulate matter exposure and MT-ND4L10550A>G heteroplasmy has been associated with BMI in adults. Therefore, we hypothesized that in utero PM2.5 exposure is associated with cord blood MT-ND4L10550A>G heteroplasmy and early life growth. In addition, the role of cord blood MT-ND4L10550A>G heteroplasmy in overweight during early childhood is investigated. Methods This study included 386 mother-newborn pairs. Outdoor PM2.5 concentrations were determined at the maternal residential address. Cord blood MT-ND4L10550A>G heteroplasmy was determined using Droplet Digital PCR. Associations were explored using logistic regression models and distributed lag linear models. Mediation analysis was performed to quantify the effects of prenatal PM2.5 exposure on childhood overweight mediated by cord blood MT-ND4L10550A>G heteroplasmy. Results Prenatal PM2.5 exposure was positively associated with childhood overweight during the whole pregnancy (OR = 2.33; 95% CI: 1.20 to 4.51; p = 0.01), which was mainly driven by the second trimester. In addition, prenatal PM2.5 exposure was associated with cord blood MT-ND4L10550A>G heteroplasmy from gestational week 9 – 13. The largest effect was observed in week 10, where a 5 µg/m3 increment in PM2.5 was linked with cord blood MT-ND4L10550A>G heteroplasmy (OR = 0.93; 95% CI: 0.87 to 0.99). Cord blood MT-ND4L10550A>G heteroplasmy was also linked with childhood overweight (OR = 3.04; 95% CI: 1.15 to 7.50; p = 0.02). The effect of prenatal PM2.5 exposure on childhood overweight was mainly direct (total effect OR = 1.18; 95% CI: 0.99 to 1.36; natural direct effect OR = 1.20; 95% CI: 1.01 to 1.36)) and was not mediated by cord blood MT-ND4L10550A>G heteroplasmy. Conclusions Cord blood MT-ND4L10550A>G heteroplasmy was linked with childhood overweight. In addition, in utero exposure to PM2.5 during the first trimester of pregnancy was associated with cord blood MT-ND4L10550A>G heteroplasmy in newborns. Our analysis did not reveal any mediation of cord blood MT-ND4L10550A>G heteroplasmy in the association between PM2.5 exposure and childhood overweight.

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Section: Discussionmentioning

confidence: 99%

In utero particulate matter exposure in association with newborn mitochondrial ND4L10550A>G heteroplasmy and its role in overweight during early childhood

et al. 2022

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“…However, since blood is a flowing fluid by nature, it may be appropriate to use a more precise assay to detect ctDNA in plasma. In fact, many studies have been reported on methods for the highly sensitive detection of the ctDNA of a specific gene by using droplet digital PCR [ 38 , 39 , 40 ]. On the other hand, according to the American Society of Clinical Oncology/College of American Pathologists, the mutation profile of peripheral blood cfDNA does not always coincide with that of tumor DNA of the same individual [ 41 ].…”

Section: Discussionmentioning

confidence: 99%

The Diagnostic Utility of Cell-Free DNA from Ex Vivo Bronchoalveolar Lavage Fluid in Lung Cancer

Otake

Goto

Higuchi

et al. 2022

Cancers

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Although bronchoscopy is generally performed to diagnose lung cancer, its diagnostic yield remains unsatisfactory. Assuming that lung cancer cells release cell-free DNA into the epithelial lining fluid, we hypothesized that lung cancer could be diagnosed by analyzing gene mutations in cell-free DNA in this fluid. This study included 32 patients with lung cancer who underwent surgery at our hospital. Bronchoalveolar lavage (BAL) was performed on the resected lung samples (ex vivo BAL model) after lobectomy. Each DNA sample (i.e., BAL fluid, primary lesion, and plasma) underwent deep targeted sequencing. Gene mutation analyses in the BAL fluid samples identified mutations identical to those in the primary lesions in 30 (93.8%) of 32 patients. In contrast, the microscopic cytology of the same BAL fluid samples yielded a diagnosis of lung cancer in only one of 32 patients, and the analysis of plasma samples revealed gene mutations identical to those in the primary lesions in only one of 32 patients. In conclusion, cell-free DNA released from lung cancer cells exists more abundantly in the airway than in the blood. The collection and analysis of the BAL fluid containing cell-free DNA derived from lung cancer can thus allow lung cancer diagnosis and the screening of driver mutations.

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“…ctDNA consists of DNA fragments that are released from tumor cells into biological fluids including blood, saliva, cerebrospinal fluid, and urine [ 25 ]. While ctDNA released from the basal side of HNSCC epithelial cells has been detected in plasma samples, DNA released on the apical side of cancerous cells is detectable in the saliva [ 23 , 26 , 27 ].…”

Section: Ctdna As Liquid Biopsy Markers Suitable For Longitudinal Sur...mentioning

confidence: 99%

Tracking the Molecular Fingerprint of Head and Neck Cancer for Recurrence Detection in Liquid Biopsies

Diez-Fraile

Ceulaer

Derpoorter

et al. 2022

IJMS

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The 5-year relative survival for patients with head and neck cancer, the seventh most common form of cancer worldwide, was reported as 67% in developed countries in the second decade of the new millennium. Although surgery, radiotherapy, chemotherapy, or combined treatment often elicits an initial satisfactory response, relapses are frequently observed within two years. Current surveillance methods, including clinical exams and imaging evaluations, have not unambiguously demonstrated a survival benefit, most probably due to a lack of sensitivity in detecting very early recurrence. Recently, liquid biopsy monitoring of the molecular fingerprint of head and neck squamous cell carcinoma has been proposed and investigated as a strategy for longitudinal patient care. These innovative methods offer rapid, safe, and highly informative genetic analysis that can identify small tumors not yet visible by advanced imaging techniques, thus potentially shortening the time to treatment and improving survival outcomes. In this review, we provide insights into the available evidence that the molecular tumor fingerprint can be used in the surveillance of head and neck squamous cell carcinoma. Challenges to overcome, prior to clinical implementation, are also discussed.

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Current and Emerging Applications of Droplet Digital PCR in Oncology: An Updated Review

Cited by 61 publications

References 251 publications

In utero particulate matter exposure in association with newborn mitochondrial ND4L10550A>G heteroplasmy and its role in overweight during early childhood

In utero particulate matter exposure in association with newborn mitochondrial ND4L10550A>G heteroplasmy and its role in overweight during early childhood

The Diagnostic Utility of Cell-Free DNA from Ex Vivo Bronchoalveolar Lavage Fluid in Lung Cancer

Tracking the Molecular Fingerprint of Head and Neck Cancer for Recurrence Detection in Liquid Biopsies

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