Liquid biopsies

Lianidou, Evi; Pantel, Klaus

doi:10.1002/gcc.22695

Cited by 127 publications

(90 citation statements)

References 114 publications

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“…In parallel, the oncologic management of advanced disease has been revolutionized by the advent of liquid biopsy, i.e., the analysis of tumoral material shed from primary tumors and their metastatic sites into peripheral blood, such as circulating tumor cells (CTCs) and circulating tumor DNA (ctDNA). Major advantages of liquid biopsy analysis include its minimal invasiveness and ability to provide real-time information about the disease [5]. To date, the utility of liquid biopsy in EC has been scarcely explored [6].…”

Section: Introductionmentioning

confidence: 99%

Genomic Profiling of Uterine Aspirates and cfDNA as an Integrative Liquid Biopsy Strategy in Endometrial Cancer

Casas-Arozamena

Díaz

Moiola

et al. 2020

JCM

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The incidence and mortality of endometrial cancer (EC) have risen in recent years, hence more precise management is needed. Therefore, we combined different types of liquid biopsies to better characterize the genetic landscape of EC in a non-invasive and dynamic manner. Uterine aspirates (UAs) from 60 patients with EC were obtained during surgery and analyzed by next-generation sequencing (NGS). Blood samples, collected at surgery, were used for cell-free DNA (cfDNA) and circulating tumor cell (CTC) analyses. Finally, personalized therapies were tested in patient-derived xenografts (PDXs) generated from the UAs. NGS analyses revealed the presence of genetic alterations in 93% of the tumors. Circulating tumor DNA (ctDNA) was present in 41.2% of cases, mainly in patients with high-risk tumors, thus indicating a clear association with a more aggressive disease. Accordingly, the results obtained during the post-surgery follow-up indicated the presence of ctDNA in three patients with progressive disease. Moreover, 38.9% of patients were positive for CTCs at surgery. Finally, the efficacy of targeted therapies based on the UA-specific mutational landscape was demonstrated in PDX models. Our study indicates the potential clinical applicability of a personalized strategy based on a combination of different liquid biopsies to characterize and monitor tumor evolution, and to identify targeted therapies.

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Section: Introductionmentioning

confidence: 99%

Genomic Profiling of Uterine Aspirates and cfDNA as an Integrative Liquid Biopsy Strategy in Endometrial Cancer

Casas-Arozamena

Díaz

Moiola

et al. 2020

JCM

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“…Thus far, there are limitations on the biomarkers being used to predict treatment response. PDL-1 expression, DNA mismatch repair instability and increased tumor mutational burden (TMB) are the biomarkers currently used to indicate patient that might benefit from immunotherapy [126][127][128]. However, not all patients who test positive for these biomarkers will respond to treatment and patient with low PD-L1 expression have shown clinical benefit [129].…”

Section: Translation Of Predictive Biomarkersmentioning

confidence: 99%

The Landscape of Targeted Therapies in TNBC

Vagia

Mahalingam

Cristofanilli

2020

Cancers

275

198

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Triple negative breast cancer (TNBC) constitutes the most aggressive molecular subtype among breast tumors. Despite progress on the underlying tumor biology, clinical outcomes for TNBC unfortunately remain poor. The median overall survival for patients with metastatic TNBC is approximately eighteen months. Chemotherapy is the mainstay of treatment while there is a growing body of evidence that targeted therapies may be on the horizon with poly-ADP-ribose polymerase (PARP) and immune check-point inhibitors already established in the treatment paradigm of TNBC. A large number of novel therapeutic agents are being evaluated for their efficacy in TNBC. As novel therapeutics are now incorporated into clinical practice, it is clear that tumor heterogeneity and clonal evolution can result to de novo or acquired treatment resistance. As precision medicine and next generation sequencing is part of cancer diagnostics, tailored treatment approaches based on the expression of molecular markers are currently being implemented in clinical practice and clinical trial design. The scope of this review is to highlight the most relevant current knowledge regarding underlying molecular profile of TNBC and its potential application in clinical practice.

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“…The detection of cancer genomic markers in the circulatory system gives great potential for the use of 'liquid biopsy' in the early detection of disease, with tumors shedding fragmented DNA (circulating tumor DNA; ctDNA), extracellular vesicles, and cells (circulating tumor cells) into the bloodstream [36]. Detection of such markers allows for an early and ongoing, non-invasive, cost-effective approach toward more routine screening for cancer and monitoring of disease recurrence especially in difficult to access tumor sites.…”

Section: Human Genomicsmentioning

confidence: 99%

Commonly setting biological standards in rare diseases

O’Connor¹,

Buckland

Almond

et al. 2019

Expert Opinion on Orphan Drugs

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Introduction: Standardization is important across the life cycle of medicinal products, supporting the diagnosis, treatment, and prevention of a wide range of diseases. For rare diseases, standardization is even more important, as patient groups are small, presenting significant challenges in the design, conduct, analysis, and interpretation of clinical studies. It is here that standardization institutions, including the UK's National Institute for Biological Standards and Control (NIBSC), can have a key role. Areas covered: A considerable proportion of NIBSC's work supports the better understanding, diagnosis, treatment, and prevention of rare diseases. NIBSC is also part of the UK's Medicines and Health care products Regulatory Agency (MHRA), creating an agency that is uniquely placed to combine scientific and regulatory expertize for the benefit of public health. This review provides an overview of NIBSC's work in rare diseases and highlights the positive impact of the work of standardization institutions in this field. Expert opinion: Standardization in product development is key for patients with rare diseases. The work of standardization institutions is increasingly being recognized as crucial for supporting scientific and clinical advancements, and early and collaborative interactions can provide drug developers with the necessary expertize, when standards matter most.

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Liquid biopsies

Cited by 127 publications

References 114 publications

Genomic Profiling of Uterine Aspirates and cfDNA as an Integrative Liquid Biopsy Strategy in Endometrial Cancer

Genomic Profiling of Uterine Aspirates and cfDNA as an Integrative Liquid Biopsy Strategy in Endometrial Cancer

The Landscape of Targeted Therapies in TNBC

Commonly setting biological standards in rare diseases

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