Analysis of <i>EGFR</i> mutation status in malignant pleural effusion and plasma from patients with advanced lung adenocarcinoma

Son, Seung-Myoung; Woo, Chang Gok; Han, Hye Sook; Lee, Ki Hyeong; Lim, Young Hyun; Lee, Ok-Jun

doi:10.1515/cclm-2019-1139

Cited by 3 publications

(3 citation statements)

References 32 publications

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“…used tissue as a standard and reported sensitivities of 63.6% in supernatants and 81.8% in cell blocks ( 18 ). Similar results have also been reported in multiple other studies ( 10 , 11 , 19 – 23 ).…”

Section: Discussionsupporting

confidence: 92%

Cytology–Based Specimen Triage for Epidermal Growth Factor Receptor Mutation Testing of Malignant Pleural Effusions in Non–Small Cell Lung Cancer

et al. 2022

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IntroductionMalignant pleural effusions are common in non–small cell lung cancer (NSCLC). Molecular testing is among the most critical steps in the management of patients with advanced NSCLC. However, the optimal approach for epidermal growth factor receptor (EGFR) mutation testing in such effusion samples remains unclear.MethodsWe prospectively collected effusion samples from patients with EGFR–mutant NSCLC. Following sample centrifugation, genomic DNA and cell–free DNA were respectively extracted from the sediment and supernatants. EGFR mutation was detected through a real–time PCR assay.ResultsA total of 108 effusions from 78 patients were examined, with 12 and 96 obtained before and after EGFR tyrosine kinase inhibitor treatment, respectively. Carcinoma cells or atypical cells were identified in 73 effusions (67.6%). EGFR mutations were detected in 86 (79.6%) sediment and 84 (77.8%) supernatant samples. Among the effusions with positive cytological findings, the EGFR mutation detection rates were 95.9% (70/73) and 86.3% (63/73) in the sediment and supernatants, respectively. Among the effusions with negative cytological findings, the corresponding detection rates were 45.7% (16/35) and 60% (21/35), respectively. Current clinical practice is to arrange EGFR mutation testing only for sediment from cytologically positive effusions. Through the proposed cytology–based specimen triage, wherein sediment and supernatants with positive and negative cytological findings, respectively, are tested, the detection rate was increased from 64.8% (70/108) to 84.3% (91/108). At half of the cost, this strategy provided a detection rate only slightly lower than the rate in a combined test of all the sediment and supernatants (87.0%, 94/108).ConclusionsThe separate extraction of DNA from sediment and supernatants obtained from centrifuged effusion samples can improve the overall EGFR mutation detection rate. The present cytology–based specimen triage is an efficient strategy for EGFR mutation testing in patients with EGFR–mutant NSCLC.

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Section: Discussionsupporting

confidence: 92%

Cytology–Based Specimen Triage for Epidermal Growth Factor Receptor Mutation Testing of Malignant Pleural Effusions in Non–Small Cell Lung Cancer

et al. 2022

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“…Improved ctDNA detection rates have been observed in cfDNA from non-blood sources compared to blood [ 29 ], with the exception of saliva [ 35 ] and sputum [ 17 , 38 ]. This has been repeatedly demonstrated in pleural effusions secondary to lung cancer, with an increased sensitivity to EGFR mutations in malignant pleural effusions over plasma, as well as over cell pellets from the effusions [ 31 , 32 , 33 , 36 ]. Furthermore, in two independent cohorts of lung adenocarcinoma patients, higher ctDNA abundance was seen in other body fluids, including ascites, pericardial effusions, and CSF, compared to blood plasma [ 39 , 40 ].…”

Section: Reliable Molecular Profiling Of Diseasementioning

confidence: 87%

“…In two case studies of recurrent medulloblastoma, where driver mutations were found to differ between the initial and recurrent disease, cfDNA from CSF was found to accurately detect the changes [ 30 ]. Similarly, cfDNA from pleural effusions has been found to correspond to matched tumour tissue [ 31 , 32 ]. Among 29 patients with lung cancer, 93% of the driver mutations identified in tumour tissue were similarly detected in the cfDNA from pleural effusions [ 33 ].…”

Section: Reliable Molecular Profiling Of Diseasementioning

confidence: 99%

Transcending Blood—Opportunities for Alternate Liquid Biopsies in Oncology

Werner

Warton

Ford

2022

Cancers

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Cell-free DNA (cfDNA) is a useful molecular biomarker in oncology research and treatment, but while research into its properties in blood has flourished, there remains much to be discovered about cfDNA in other body fluids. The cfDNA from saliva, sputum, cerebrospinal fluid, urine, faeces, pleural effusions, and ascites has unique advantages over blood, and has potential as an alternative ‘liquid biopsy’ template. This review summarises the state of current knowledge and identifies the gaps in our understanding of non-blood liquid biopsies; where their advantages lie, where caution is needed, where they might fit clinically, and where research should focus in order to accelerate clinical implementation. An emphasis is placed on ascites and pleural effusions, being pathological fluids directly associated with cancer. We conclude that non-blood fluids are viable sources of cfDNA in situations where solid tissue biopsies are inaccessible, or only accessible from dated archived specimens. In addition, we show that due to the abundance of cfDNA in non-blood fluids, they can outperform blood in many circumstances. We demonstrate multiple instances in which DNA from various sources can provide additional information, and thus we advocate for analysing non-blood sources as a complement to blood and/or tissue. Further research into these fluids will highlight opportunities to improve patient outcomes across cancer types.

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Biomarkers in the management of lung cancer: changing the practice of thoracic oncology

Melichar

2022

Clinical Chemistry and Laboratory Medicine (CCLM)

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Lung cancer currently represents a leading cause of cancer death. Substantial progress achieved in the medical therapy of lung cancer during the last decade has been associated with the advent of targeted therapy, including immunotherapy. The targeted therapy has gradually shifted from drugs suppressing general mechanisms of tumor growth and progression to agents aiming at transforming mechanisms like driver mutations in a particular tumor. Knowledge of the molecular characteristics of a tumor has become an essential component of the more targeted therapeutic approach. There are specific challenges for biomarker determination in lung cancer, in particular a commonly limited size of tumor sample. Liquid biopsy is therefore of particular importance in the management of lung cancer. Laboratory medicine is an indispensable part of multidisciplinary management of lung cancer. Clinical Chemistry and Laboratory Medicine (CCLM) has played and will continue playing a major role in updating and spreading the knowledge in the field.

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Analysis of EGFR mutation status in malignant pleural effusion and plasma from patients with advanced lung adenocarcinoma

Cited by 3 publications

References 32 publications

Cytology–Based Specimen Triage for Epidermal Growth Factor Receptor Mutation Testing of Malignant Pleural Effusions in Non–Small Cell Lung Cancer

Cytology–Based Specimen Triage for Epidermal Growth Factor Receptor Mutation Testing of Malignant Pleural Effusions in Non–Small Cell Lung Cancer

Transcending Blood—Opportunities for Alternate Liquid Biopsies in Oncology

Biomarkers in the management of lung cancer: changing the practice of thoracic oncology

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