Promises and Pitfalls of Using Liquid Biopsy for Precision Medicine

Rossi, Giovanna; Ignatiadis, Michail

doi:10.1158/0008-5472.can-18-3402

Cited by 124 publications

(99 citation statements)

References 80 publications

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“…An emerging field that may ameliorate some tumor sample issues is the testing of circulating tumor-specific markers. These include circulating tumor cells (CTC) or circulating tumor DNA (ctDNA), as well as RNAs, proteins, or metabolites, that are present in body fluids such as the blood, urine, and peritoneal or cerebrospinal fluid [50][51][52][53][54]. Liquid biopsies are easily accessible through minimally invasive procedures that can be repeated to provide a dynamic and longitudinal assessment of tumor-specific diagnostic, prognostic, or predictive biomarkers.…”

Section: Circulating Biomarkersmentioning

confidence: 99%

Molecular profiling for precision cancer therapies

et al. 2020

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The number of druggable tumor-specific molecular aberrations has grown substantially in the past decade, with a significant survival benefit obtained from biomarker matching therapies in several cancer types. Molecular pathology has therefore become fundamental not only to inform on tumor diagnosis and prognosis but also to drive therapeutic decisions in daily practice. The introduction of next-generation sequencing technologies and the rising number of large-scale tumor molecular profiling programs across institutions worldwide have revolutionized the field of precision oncology. As comprehensive genomic analyses become increasingly available in both clinical and research settings, healthcare professionals are faced with the complex tasks of result interpretation and translation. This review summarizes the current and upcoming approaches to implement precision cancer medicine, highlighting the challenges and potential solutions to facilitate the interpretation and to maximize the clinical utility of molecular profiling results. We describe novel molecular characterization strategies beyond tumor DNA sequencing, such as transcriptomics, immunophenotyping, epigenetic profiling, and single-cell analyses. We also review current and potential applications of liquid biopsies to evaluate blood-based biomarkers, such as circulating tumor cells and circulating nucleic acids. Last, lessons learned from the existing limitations of genotype-derived therapies provide insights into ways to expand precision medicine beyond genomics.

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Section: Circulating Biomarkersmentioning

confidence: 99%

Molecular profiling for precision cancer therapies

et al. 2020

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“…Blood specimen analyses for circulating cell-free DNA and RNA from tumors, which have become known as ''liquid biopsies,'' are moving rapidly into clinical use and are currently under investigation for a wide variety of clinical decision-making applications. 45 Thus, guidelines for the testing of circulating tumor DNA in cancer patients have recently been developed by the CAP and ASCO. 46…”

Section: The Rapid Growth In Demand For Molecular Testing and The Ratmentioning

confidence: 99%

Preanalytics and Precision Pathology: Pathology Practices to Ensure Molecular Integrity of Cancer Patient Biospecimens for Precision Medicine

Compton

Robb

Anderson

et al. 2019

Archives of Pathology &Amp; Laboratory Medicine

107

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Biospecimens acquired during routine medical practice are the primary sources of molecular information about patients and their diseases that underlies precision medicine and translational research. In cancer care, molecular analysis of biospecimens is especially common because it often determines treatment choices and may be used to monitor therapy in real time. However, patient specimens are collected, handled, and processed according to routine clinical procedures during which they are subjected to factors that may alter their molecular quality and composition. Such artefactual alteration may skew data from molecular analyses, render analysis data uninterpretable, or even preclude analysis altogether if the integrity of a specimen is severely compromised. As a result, patient care and safety may be affected, and medical research dependent on patient samples may be compromised. Despite these issues, there is currently no requirement to control or record preanalytical variables in clinical practice with the single exception of breast cancer tissue handled according to the guideline jointly developed by the American Society of Clinical Oncology and College of American Pathologists (CAP) and enforced through the CAP Laboratory Accreditation Program. Recognizing the importance of molecular data derived from patient specimens, the CAP Personalized Healthcare Committee established the Preanalytics for Precision Medicine Project Team to develop a basic set of evidence-based recommendations for key preanalytics for tissue and blood specimens. If used for biospecimens from patients, these preanalytical recommendations would ensure the fitness of those specimens for molecular analysis and help to assure the quality and reliability of the analysis data.

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“…Серийный анализ образцов плазмы не вызывает затруднений для пациента. Считается, что жидкостная биопсия позволяет получить интегральное представление о биологическом статусе всех опухолевых очагов, присутствующих в организме [39][40][41]. В настоящее время жидкостная биопсия уже используется в практической онкологии для анализа мутаций EGFR Т790М у пациентов, получающих лечение гефитинибом, эрлотинибом или афатинибом.…”

Section: мониторинг молекулярного портрета опухоли в процессе леченияunclassified

Molecular diagnostics in oncology: new trends

Imyanitov

Наумович²

2020

Medical academic journal

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Molecular diagnostics is a mandatory component of modern clinical oncology. The most known examples of molecular diagnostic procedures include the detection of hereditary cancer syndromes and the analysis of somatic drug-sensitizing mutations in protein kinases. Advances in cancer research as well as the development of new technologies led to emergence of new trends in this area of medicine. The invention of next generation sequencing (NGS) has a potential to dramatically change the landscape of molecular diagnostics. NGS allows to significantly improve the efficiency and availability of genetic testing for hereditary cancers as well as to undertake comprehensive tumor mutation profiling to guide the therapy choice. Tumors usually change their properties during therapeutic intervention. Monitoring of these properties is important for proper selection of further treatment options. So-called liquid biopsy is essential for this purpose, as it allows to detect key molecular features of the tumors by a non-invasive approach. There is an increasing popularity of ex vivo tumor models, which allow to cultivate tumor cells and to select the therapy based on the results of drug sensitivity tests.

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Promises and Pitfalls of Using Liquid Biopsy for Precision Medicine

Cited by 124 publications

References 80 publications

Molecular profiling for precision cancer therapies

Molecular profiling for precision cancer therapies

Preanalytics and Precision Pathology: Pathology Practices to Ensure Molecular Integrity of Cancer Patient Biospecimens for Precision Medicine

Molecular diagnostics in oncology: new trends

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