The diagnostic accuracy of circulating tumor DNA for the detection of EGFR-T790M mutation in NSCLC: a systematic review and meta-analysis

Passiglia, Francesco; Rizzo, Sérgio; Maïo, Massimo Di; Galvano, Antonio; Badalamenti, Giuseppe; Listì, Angela; Gulotta, Leonardo; Castiglia, Marta; Fulfaro, Fabio; Bazan, Viviana

doi:10.1038/s41598-018-30780-4

Cited by 73 publications

(70 citation statements)

References 43 publications

(43 reference statements)

Supporting

Mentioning

Contrasting

Order By: Relevance

“…The pooled analysis showed a global sensitivity for ctDNA analysis of 0.67 (95% CI: 0.64–0.70), with a pooled specificity of 0.80 (95% CI: 0.77–0.83). The global PPV was 0.85 (95% CI: 0.82–0.87), and the negative predictive value (NPV) was 0.60 (95% CI: 0.56–0.63) [ 31 ].…”

Section: Available Assays and Target Genomic Alterations In Lung Cmentioning

confidence: 99%

See 1 more Smart Citation

The Role of the Liquid Biopsy in Decision-Making for Patients with Non-Small Cell Lung Cancer

Akhoundova

Martinez²,

Musmann

et al. 2020

JCM

View full text Add to dashboard Cite

Liquid biopsy is a rapidly emerging tool of precision oncology enabling minimally invasive molecular diagnostics and longitudinal monitoring of treatment response. For the clinical management of advanced stage lung cancer patients, detection and quantification of circulating tumor DNA (ctDNA) is now widely adopted into clinical practice. Still, interpretation of results and validation of ctDNA-based treatment decisions remain challenging. We report here our experience implementing liquid biopsies into the clinical management of lung cancer. We discuss advantages and limitations of distinct ctDNA assay techniques and highlight our approach to the analysis of recurrent molecular alterations found in lung cancer. Moreover, we report three exemplary clinical cases illustrating the complexity of interpreting liquid biopsy results in clinical practice. These cases underscore the potential and current limitations of liquid biopsy, focusing on the difficulty of interpreting discordant findings. In our view, despite all current limitations, the analysis of ctDNA in lung cancer patients is an essential and highly versatile complementary diagnostic tool for the clinical management of lung cancer patients in the era of precision oncology.

show abstract

Section: Available Assays and Target Genomic Alterations In Lung Cmentioning

confidence: 99%

“…In platelets, the sensitivity increased to 65%, maintaining the 100% of specificity [ 37 ]. The lower sensitivity observed for the plasma test could be related to the lower stability of circulating RNA in plasma as compared to RNA extracted from platelets [ 31 ].…”

Section: Available Assays and Target Genomic Alterations In Lung Cmentioning

confidence: 99%

The Role of the Liquid Biopsy in Decision-Making for Patients with Non-Small Cell Lung Cancer

Akhoundova

Martinez²,

Musmann

et al. 2020

JCM

View full text Add to dashboard Cite

show abstract

“…In lung cancer patients with acquired resistance to first generation epidermal growth factor receptor tyrosine kinase inhibitor (EGFR‐TKI), ctDNA testing allows a rapid and noninvasive access to identify the presence of the resistance‐associated acquired mutation T790M that predicts response to the third‐generation EGFR‐TKI, osimertinib . Recent meta‐analysis has shown that T790M can be detected in plasma ctDNA with high sensitivity and specificity . Patients treated with osimertinib may subsequently develop further mechanisms of acquired resistance and have disease progression after a median treatment duration of 10 months .…”

Section: Introductionmentioning

confidence: 99%

Plasma next generation sequencing and droplet digital PCR‐based detection of epidermal growth factor receptor (EGFR) mutations in patients with advanced lung cancer treated with subsequent‐line osimertinib

et al. 2019

View full text Add to dashboard Cite

Background: Gene mutation analysis from plasma circulating tumor DNA (ctDNA) can provide timely information regarding the mechanism of resistance that could translate to personalised treatment. We compared concordance rate of next generation sequencing (NGS) and droplet digital polymerase chain reaction (ddPCR) in the detection of the EGFR activating and T790M mutation from plasma ctDNA with diagnostic tissue biopsy-based assays. The second objective was to test whether putative osimertinib resistance associated mutations were detectable from plasma using NGS. Methods: From January 2016 to December 2017, we prospectively collected plasma samples from patients prior to commencement of second-or third-line osimertinib therapy and upon disease progression, in a single tertiary hospital in South Western Sydney, Australia. Amplicon-based NGS and ddPCR assays were used to detect activating epidermal growth factor receptor (EGFR) and T790M mutations in 18 plasma samples from nine patients; all patients were required to have tissue biopsies with known EGFR status. Results: High concordance of allelic fractions were seen in matched plasma NGS and ddPCR for activating EGFR mutations and T790M mutations (R 2 = 0.92, P < 0.0001). Using tissue biopsies as reference standard, sensitivity was 100% for NGS and 94% for ddPCR. Several possible osimertinib resistance associated mutations, including PIK3CA, BRAF and TP53 mutations, were detected by NGS in samples upon progression on osimertinib therapy. Conclusion: ddPCR assays for EGFR mutations appear to be as sensitive and highly concordant as amplicon-based NGS. NGS has the ability to detect novel resistance mutations.

show abstract

“…The reported area under the curve (AUC) of the summary receiver operating curve (sROC) was 0.77. This data highlighted the promising nature of this noninvasive approach and the need for standardized methodologies and clinical validation [ 84 ].…”

Section: Evolving Role Of Liquid Biopsy In Nsclcmentioning

confidence: 99%

Epidermal Growth Factor Receptor (EGFR)-Mutated Non-Small-Cell Lung Cancer (NSCLC)

et al. 2020

View full text Add to dashboard Cite

Epidermal growth factor receptor (EGFR) mutations are the most common oncogenic drivers in non-small-cell lung cancer (NSCLC). Significant developments have taken place which highlight the differences in tumor biology that exist between the mutant and wild-type subtypes of NSCLC. Patients with advanced EGFR-mutant NSCLC have a variety of EGFR-targeting agents available proven to treat their disease. This has led to superior patient outcomes when used as a monotherapy over traditional cytotoxic systemic therapy. Attempts at combining EGFR agents with other anticancer systemic treatment options, such as chemotherapy, antiangiogenic agents, and immunotherapy, have shown varied outcomes. Currently, no specific combination stands out to cause a shift away from the use of single-agent EGFR inhibitors in the first-line setting. Similarly, adjuvant EGFR inhibitors, are yet to significantly add to patient overall survival if used at earlier timepoints in the disease course. Liquid biopsy is an evolving technology with potential promise of being incorporated into the management paradigm of this disease. Data are emerging to suggest that this technique may be capable of identifying early resistance mechanisms and consequential disease progression on the basis of the analysis of blood-based circulating tumor cells.

show abstract

The diagnostic accuracy of circulating tumor DNA for the detection of EGFR-T790M mutation in NSCLC: a systematic review and meta-analysis

Cited by 73 publications

References 43 publications

The Role of the Liquid Biopsy in Decision-Making for Patients with Non-Small Cell Lung Cancer

The Role of the Liquid Biopsy in Decision-Making for Patients with Non-Small Cell Lung Cancer

Plasma next generation sequencing and droplet digital PCR‐based detection of epidermal growth factor receptor (EGFR) mutations in patients with advanced lung cancer treated with subsequent‐line osimertinib

Epidermal Growth Factor Receptor (EGFR)-Mutated Non-Small-Cell Lung Cancer (NSCLC)

Contact Info

Product

Resources

About