An update on liquid biopsy analysis for diagnostic and monitoring applications in non-small cell lung cancer

Mayo‐de‐las‐Casas, Clara; Ibañez, Mónica Garzón; Jordana‐Ariza, Núria; García‐Peláez, Beatriz; Balada-Bel, Ariadna; Villatoro, Sergio; Malapelle, Umberto; Karachaliou, Niki; Troncone, Giancarlo; Rosell, Rafael; Molina-Vila, Miguel Ángel

doi:10.1080/14737159.2018.1407243

Cited by 46 publications

(34 citation statements)

References 89 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…The five‐year overall survival rate of NSCLC remains as low as 16% because most patients are already at a locally advanced or metastatic stage when diagnosed . This may be at least partially attributable to inadequate understanding of the pathogenesis of NSCLC and the lack of early diagnostic biomarkers and therapeutic targets . Thus, there is an urgent need to reveal the mechanisms behind the generation and progression of NSCLC.…”

Section: Introductionmentioning

confidence: 99%

Long non‐coding RNA linc01433 promotes migration and invasion in non‐small cell lung cancer

et al. 2018

View full text Add to dashboard Cite

BackgroundFor many years, lung cancer has been the most common and deadly cancer worldwide. Early diagnosis of non‐small cell lung cancer (NSCLC) in particular is very difficult because the symptoms are often ignored. The five‐year survival rate is very low despite great improvements to therapy. Thus, there is an urgent need to identify prognostic biomarkers and target molecules for the clinical diagnosis and individualized treatment of NSCLC.MethodsWe performed quantitative real‐time PCR to determine the expression levels of the long non‐coding RNA (lncRNA) linc01433 in NSCLC and normal matched lung tissue. Subsequently, we established cell lines with overexpression or knockdown of linc01433 to evaluate the effects on proliferation and metastasis in vitro. Epithelial‐to‐mesenchymal transition was examined using Western blot.ResultsLinc01433 was significantly overexpressed in NSCLC tissues compared to normal lung tissues. In addition, linc01433 levels were associated with smoking history. Linc01433 overexpression in lung cancer cells increased proliferation, migration, and invasion abilities, as well as epithelial‐to‐mesenchymal transition.ConclusionsLinc01433 is a cancer‐related lncRNA that may have an oncogene‐like effect in NSCLC.

show abstract

Section: Introductionmentioning

confidence: 99%

Long non‐coding RNA linc01433 promotes migration and invasion in non‐small cell lung cancer

et al. 2018

View full text Add to dashboard Cite

show abstract

“…After validation by AccuRef Diagnostics, the sets of unstained slides (A‐D) were distributed to the 17 laboratories; some of the laboratories that specialized in NGS testing of cytological samples had also taken part in the working group of the latest annual meeting on molecular cytopathology held in Naples, Italy (Fig. ) . Each laboratory stained the slides by applying their own routine protocols (Diff Quik, Papanicolaou, or hematoxylin‐eosin staining).…”

Section: Methodsmentioning

confidence: 99%

Consistency and reproducibility of next‐generation sequencing in cytopathology: A second worldwide ring trial study on improved cytological molecular reference specimens

Pisapia

Malapelle

Roma

et al. 2019

Cancer Cytopathology

Self Cite

View full text Add to dashboard Cite

Background Artificial genomic reference standards in a cytocentrifuge/cytospin format with well‐annotated genomic data are useful for validating next‐generation sequencing (NGS) on routine cytopreparations. Here, reference standards were optimized to be stained by different laboratories before DNA extraction and to contain a lower number of cells (2 × 105). This was done to better reflect the clinical challenge of working with insufficient cytological material. Methods A total of 17 worldwide laboratories analyzed customized reference standard slides (slides A‐D). Each laboratory applied its standard workflow. The sample slides were engineered to harbor epidermal growth factor receptor (EGFR) c.2235_2249del15 p.E746_A750delELREA, EGFR c.2369C>T p.T790M, Kirsten rat sarcoma viral oncogene homolog (KRAS) c.38G>A p.G13D, and B‐Raf proto‐oncogene, serine/threonine kinase (BRAF) c.1798_1799GT>AA p.V600K mutations at various allele frequencies (AFs). Results EGFR and KRAS mutation detection showed excellent interlaboratory reproducibility, especially on slides A and B (10% and 5% AFs). On slide C (1% AF), either the EGFR mutation or the KRAS mutation was undetected by 10 of the 17 laboratories (58.82%). A reassessment of the raw data in a second‐look analysis highlighted the mutations (n = 10) that had been missed in the first‐look analysis. BRAF c.1798_1799GT>AA p.V600K showed a lower concordance rate for mutation detection and AF quantification. Conclusions The data show that the detection of low‐abundance mutations is still clinically challenging and may require a visual inspection of sequencing reads to detect. Genomic reference standards in a cytocentrifuge/cytospin format are a valid tool for regular quality assessment of laboratories performing molecular studies on cytology with low‐AF mutations.

show abstract

“…Before its application, there are several challenges, including the major challenge of determining the sensitivity and specificity of ctDNA detection due to its scarcity in the blood when compared to the cfDNA from normal cells [50]. Some studies demonstrated that the quantification and analysis of the cfDNA in the blood during the early disease stages was challenging due to the very low concentration (approximately 0.01%-1%) of the ctDNA fraction [51]. The traditional ctDNA analytic approaches can be broadly divided into amplification and sequencing-based methods.…”

Section: B Cfdna /Ctdnamentioning

confidence: 99%

Current advances in early detection, residual disease monitoring and treatment response in lung cancer: liquid biopsy

Güven¹,

Gülhan²

2018

Curr Thorac Surg

View full text Add to dashboard Cite

Lung cancer exhibits the highest mortality rate of all malignant tumors, and only a minority of non-small cell lung cancer (NSCLC) patients are diagnosed with localized, early stage tumors. Unfortunately, NSCLC is usually detected at advanced and inoperable stages. Tumor biomarkers can detect early stage lung cancer independently or in combination with low-dose computed tomography-based screening techniques. A liquid biopsy is a noninvasive modality for the pathological and molecular characterization of cancer, and it can be isolated from bodily fluids. There are a variety of biological elements that can be isolated from the peripheral blood, such as exosomes, circulating cell-free (tumor) DNA, circulating tumor cells, and microRNA. A liquid biopsy can be used to detect somatic mutations before treatment and dynamically during treatment, and to monitor the treatment response. It can also be used for minimal residual disease quantification, and to determine the emergence of therapy resistance. Despite the numerous research studies showing successful results, clinically available lung cancer biomarkers do not have sufficiently high specificity and sensitivity for widespread use. Therefore, universal experimental and therapeutic research regarding advanced molecular diagnostics has become necessary.

show abstract

An update on liquid biopsy analysis for diagnostic and monitoring applications in non-small cell lung cancer

Cited by 46 publications

References 89 publications

Long non‐coding RNA linc01433 promotes migration and invasion in non‐small cell lung cancer

Long non‐coding RNA linc01433 promotes migration and invasion in non‐small cell lung cancer

Consistency and reproducibility of next‐generation sequencing in cytopathology: A second worldwide ring trial study on improved cytological molecular reference specimens

Current advances in early detection, residual disease monitoring and treatment response in lung cancer: liquid biopsy

Contact Info

Product

Resources

About