Cancer Diagnosis Using a Liquid Biopsy: Challenges and Expectations

Castro-Giner, Francesc; Gkountela, Sofia; Donato, Cinzia; Alborelli, Ilaria; Quagliata, Luca; Ng, Charlotte K.Y.; Piscuoglio, Salvatore; Aceto, Nicola

doi:10.3390/diagnostics8020031

Cited by 105 publications

(93 citation statements)

References 161 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…ctDNA analysis has been optimized for routine diagnostic use in disease monitoring [103,104] and for the identification of actionable mutations (for example, the detection of EGFR mutations in non-small cell lung cancer [105]). Its use in other applications, such as early cancer detection, is still under investigation (see below) [106]. Generally, the use of ctDNA provides a costeffective and highly sensitive tool, but this tool is still mainly utilized for the detection of mutations in predefined cancer genomic hotspots.…”

Section: Ctcs Versus Ctdna In the Clinical Settingmentioning

confidence: 99%

Tracking cancer progression: from circulating tumor cells to metastasis

2020

Self Cite

View full text Add to dashboard Cite

The analysis of circulating tumor cells (CTCs) is an outstanding tool to provide insights into the biology of metastatic cancers, to monitor disease progression and with potential for use in liquid biopsy-based personalized cancer treatment. These goals are ambitious, yet recent studies are already allowing a sharper understanding of the strengths, challenges, and opportunities provided by liquid biopsy approaches. For instance, through single-cellresolution genomics and transcriptomics, it is becoming increasingly clear that CTCs are heterogeneous at multiple levels and that only a fraction of them is capable of initiating metastasis. It also appears that CTCs adopt multiple ways to enhance their metastatic potential, including homotypic clustering and heterotypic interactions with immune and stromal cells. On the clinical side, both CTC enumeration and molecular analysis may provide new means to monitor cancer progression and to take individualized treatment decisions, but their use for early cancer detection appears to be challenging compared to that of other tumor derivatives such as circulating tumor DNA. In this review, we summarize current data on CTC biology and CTC-based clinical applications that are likely to impact our understanding of the metastatic process and to influence the clinical management of patients with metastatic cancer, including new prospects that may favor the implementation of precision medicine. Publisher's NoteSpringer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

show abstract

Section: Ctcs Versus Ctdna In the Clinical Settingmentioning

confidence: 99%

Tracking cancer progression: from circulating tumor cells to metastasis

2020

Self Cite

View full text Add to dashboard Cite

show abstract

“…Tumor biopsies normally accomplish the sampling of only a part of the tumor and may only capture a fraction of its heterogeneity, consequently not being totally informative about the levels of genetic variability of a patient's cancer. Moreover, it is unlikely for a patient to undergo sequential biopsies of primary and metastatic lesions along tumor progression …”

Section: Introductionmentioning

confidence: 99%

“…Moreover, it is unlikely for a patient to undergo sequential biopsies of primary and metastatic lesions along tumor progression. 7 During the last years, to answer the need of a more accessible approach for tumor genetic analysis, "liquid biopsy" is emerging as an innovative, minimally invasive and efficient alternative to investigate cancer cells being able to take multiple blood samples over time informing on what type of molecular changes are taking place in a tumor. [8][9][10] Now the cell-free DNA (cfDNA) analysis has the possibility to overcome the space-time profile constraint of physical biopsies and opens a new scenario for personalized treatment.…”

Section: Introductionmentioning

confidence: 99%

“…Among patients with distant metastatic disease, the visceral metastasis was the most common metastatic site (32.4%) followed by coexistence of both bone and visceral (19.1%) (Table 1). The median follow-up of OS for all patients was 3.2 months (range[1][2][3][4][5][6][7][8][9][10][11][12][13][14][15]. At the time of survival analysis, death by tumor progression occurred in 12/68 (17.6%) patients.…”

mentioning

confidence: 99%

See 1 more Smart Citation

Two‐point‐NGS analysis of cancer genes in cell‐free DNA of metastatic cancer patients

et al. 2020

View full text Add to dashboard Cite

Background Although the efficacy of molecularly target agents in vitro, their use in routine setting is limited mainly to the use of anti‐HER2 and antiEGFR agents in vivo. Moreover, core biopsy of a single cancer site may not be representative of the whole expanding clones and cancer molecular profile at relapse may differ with respect to the primary tumor. Methods We assessed the status of a large panel of cancer driver genes by cell‐free DNA (cfDNA) analysis in a cohort of 68 patients with 13 different solid tumors at disease progression. Whenever possible, a second cfDNA analysis was performed after a mean of 2.5 months, in order to confirm the identified clone(s) and to check the correlation with clinical evolution. Results The approach was able to identify clones plausibly involved in the disease progression mechanism in about 65% of cases. A mean of 1.4 mutated genes (range 1‐3) for each tumor was found. Point mutations in TP53, PIK3CA, and KRAS and copy number variations in FGFR3 were the gene alterations more commonly observed, with a rate of 48%, 20%, 16%, and 20%, respectively. Two‐points‐Next‐Generation Sequencing (NGS) analysis demonstrated statistically significant correlation between allele frequency variation and clinical outcome (P = .026). Conclusions Irrespective of the primary tumor mutational burden, few mutated genes are present at disease progression. Clinical outcome is consistent with variation of allele frequency of specific clones indicating that cfDNA two‐point‐NGS analysis of cancer driver genes could be an efficacy tool for precision oncology.

show abstract

“…New techniques, such as radiomics, look at individual differences that exist in cancer cells in order to determine a personalized, highly targeted treatment course, solutions that classical methods cannot provide. 1,2 In response to deficiencies in tissue testing, non-invasive medical imaging, such as magnetic resonance imaging (MRI), computed tomography (CT), and positron emission tomography (PET) are used to assess tumor locations and metastases. 3 In addition, imaging provides valuable information for personalized medicine.…”

Section: Introductionmentioning

confidence: 99%

<p>Application of Radiomics for Personalized Treatment of Cancer Patients</p>

Meng¹,

Sun²,

Qu³

et al. 2019

CMAR

View full text Add to dashboard Cite

Radiomics is a novel concept that relies on obtaining image data from examinations such as computed tomography (CT), magnetic resonance imaging (MRI), or positron emission tomography (PET). With the appropriate algorithm, the extracted results have broad applicability and potential for a massive positive impact in radiology. For example, clinicians can verify treatment efficiency, predict the location of tumor metastasis, correlate results with a histopathological examination, or more accurately define the type of cancer. Combining radiomics with other testing techniques allows every patient to have a personalized treatment plan that is essential for advanced examination and treatment. This article explains the process of radiomics, including data collection mechanisms, combined use with genomics, and artificial intelligence and immunology techniques, which may solve many of the challenges faced by doctors in diagnosing and treating their patients.

show abstract

Cancer Diagnosis Using a Liquid Biopsy: Challenges and Expectations

Cited by 105 publications

References 161 publications

Tracking cancer progression: from circulating tumor cells to metastasis

Tracking cancer progression: from circulating tumor cells to metastasis

Two‐point‐NGS analysis of cancer genes in cell‐free DNA of metastatic cancer patients

<p>Application of Radiomics for Personalized Treatment of Cancer Patients</p>

Contact Info

Product

Resources

About