MSI-H testing via hybrid capture based NGS sequencing of liquid biopsy samples.

2019 ◽  
Vol 37 (4_suppl) ◽  
pp. 504-504
Author(s):  
Kyle Gowen ◽  
Travis A Clark ◽  
Jeffrey P. Gregg ◽  
Mandy Z. Greene ◽  
Annie Murphy ◽  
...  
Keyword(s):  
Cell Lines ◽  
Liquid Biopsy ◽  
Checkpoint Inhibitors ◽  
Clinical Care ◽  
Mononucleotide Repeat ◽  
Liquid Biopsies ◽  
Tumor Biopsy ◽  
Mixing Ratios ◽  
Patients With Cancer ◽  
Fda Approval

504 Background: Microsatellite instability (MSI) testing has become critically important in clinical cancer care of patients with cancer given the recent pan-tumor FDA approval of pembrolizumab for use in patients with MSI-High (MSI-H) tumors. We previously demonstrated the robustness of a novel proprietary algorithm for determination of MSI status via NGS from solid tumor biopsy specimens (J Clin Oncol 34, 2016 (suppl; abstr 1523)). Traditional MSI tests such as PCR or IHC are impractical for pan-tumor adoption, as MSI-H prevalence outside of gastrointestinal and endometrial cancers is usually < 1%. NGS-based ctDNA profiling provides an opportunity for both MSI and actionable alteration testing in patients in whom tissue-based biopsy is not available. Methods: Genomic DNA (gDNA) from five previously characterized MSI-H cell lines: (DLD1, 22Rv1, LNCap, RL952, CL188), and one MSS cell line (SCC9) was enzymatically-fragmented to simulate ctDNA and titrated to various dilution levels with DNA from a healthy hapmap subject (NA12878). Samples were screened with a 70-gene panel, FoundationOne Liquid, that includes 180 mononucleotide repeat sequences (8-26bp long in the human reference genome). Length variability in the 180 repeat loci was utilized to generate an overall MSI score via principal components analysis. The NGS based MSI algorithm was applied to all the samples. Results: Assessment of these six cell lines, targeting five dilution levels confirmed by SNP mixing ratios, show that our NGS based MSI test for liquid biopsies has 96% sensitivity at > 2% tumor fraction with 100% PPV. The regression intercept of the MSI-H dilution samples with the pre-established MSI-H calling threshold shows our method has a LOD of 1.03% tumor fraction. MSI-H prevalence data from liquid biopsies of gastrointestinal tumors obtained during clinical care will also be presented. Conclusions: These data demonstrate the feasibility of using NGS-based liquid biopsy assays for MSI testing. This ctDNA-based approach will allow for increased access to checkpoint inhibitors in a pan-tumor setting, which would be especially relevant for cancers where routine MSI testing is impractical or when tissue is not available.

BRCA1/2 reversion mutations revealed in breast and gynecologic cancers sequenced during routine clinical care using tissue or liquid biopsy.

2017 ◽  
Vol 35 (15_suppl) ◽  
pp. 5551-5551 ◽  
Author(s):  
Paul Mayor ◽  
Laurie M. Gay ◽  
Erica Gornstein ◽  
Samantha Morley ◽  
Garrett Michael Frampton ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Liquid Biopsy ◽  
Clinical Care ◽  
Metastatic Breast ◽  
Allele Frequencies ◽  
Genomic Alteration ◽  
Liquid Biopsies ◽  
Peritoneal Cancer ◽  
Routine Clinical Care ◽  
Over Time

5551 Background: Tumors with genomic alteration (GA) of BRCA1 or BRCA2 ( BRCA) may be more sensitive to platinum (Pt) therapies and PARP inhibitors (PARPi). However, secondary reversion mutations (revGA) can arise that may restore BRCA function and underlie reduced sensitivity to Pt compounds or PARPi. Methods: DNA extracted from FFPE tumor tissue or blood samples obtained during routine clinical care for patients with predominantly relapsed, refractory or metastatic breast cancer (10967) or ovarian/peritoneal cancer (8352) was analyzed by hybrid-capture, next-generation sequencing for all classes of GA: base substitutions, indels, rearrangements, and copy number changes. RevGA were any GA that could restore the reading frame if in cis with a nonsense or frameshift (fs) GA. Results: 1900/19329 (9.8% ± 0.4%) tumors had ≥1 deleterious BRCA GA. 38 samples harbored potential revGA in BRCA1 (16) or BRCA2 (22): breast carcinoma (Ca) (21), ovarian or peritoneal serous Ca (10), ovarian or peritoneal adenocarcinoma (3), and ovarian epithelial Ca NOS (4). 35/38 sequenced samples were metastases. All potential revGA were somatic and fell into 3 classes: overlapping indel (21), compensatory fs (6), and missense mutation (11). One case harbored both an overlapping indel and a missense mutation with potential to revert a nonsense alteration. For 6 patients, testing of multiple tissue samples reveals the acquisition of revGA over time. RevGA are generally observed at allele frequencies lower than the deleterious GA they may revert. Clinical histories for patients with reversion mutations will be presented. Conclusions: Genomic profiling of breast and gynecological carcinomas, using either tissue or liquid biopsies, reveals potential revGA that may restore some level of BRCA function. RevGA, although rare, can be acquired during the course of treatment. We identified potentially compensatory missense, fs and indel mutations with CGP. Comparison of allele frequencies suggests that revGA often arise as subclones. The acquisition of a revGA over time can be observed through testing of multiple samples, either tissue or liquid biopsy.

scholarly journals Liquid Biopsy of Hepatocellular Carcinoma: Circulating Tumor-Derived Biomarkers

2016 ◽  
Vol 2016 ◽  
pp. 1-11 ◽  
Author(s):  
Chang-Qing Yin ◽  
Chun-Hui Yuan ◽  
Zhen Qu ◽  
Qing Guan ◽  
Hao Chen ◽  
...  
Keyword(s):  
Hepatocellular Carcinoma ◽  
Cancer Progression ◽  
Liquid Biopsy ◽  
Clinical Decision Making ◽  
Early Stage ◽  
Prognostic Significance ◽  
Liquid Biopsies ◽  
Tumor Biopsy ◽  
Diagnostic Strategies ◽  
Systemic Treatments

Hepatocellular carcinoma (HCC) is the second leading cause of cancer-related death worldwide due to latent liver disease, late diagnosis, and nonresponse to systemic treatments. Till now, surgical and/or biopsy specimens are still generally used as a gold standard by the clinicians for clinical decision-making. However, apart from their invasive characteristics, tumor biopsy only mirrors a single spot of the tumor, failing to reflect current cancer dynamics and progression. Therefore, it is imperative to develop new diagnostic strategies with significant effectiveness and reliability to monitor high-risk populations and detect HCC at an early stage. In the past decade, the potent utilities of “liquid biopsy” have attracted intense concern and were developed to evaluate cancer progression in several clinical trials. “Liquid biopsies” represent a series of noninvasive tests that detect cancer byproducts easily accessible in peripheral blood, mainly including circulating tumor cells (CTCs) and cell-free nucleic acids (cfNAs) that are shed into the blood from the tumor sites. In this review, we focus on the recent developments in the field of “liquid biopsy” as well as the diagnostic and prognostic significance of CTCs and cfNAs in HCC patients.

scholarly journals A Next Generation Liquid Biopsy Approach for Multiple Myeloma

Blood ◽  
2020 ◽  
Vol 136 (Supplement 1) ◽  
pp. 33-33
Author(s):  
Daniel Auclair ◽  
Mark Bustoros, MD ◽  
Carrie Cibulskis ◽  
Teni Dowdell ◽  
Svetlana Gavrilov ◽  
...  
Keyword(s):  
Multiple Myeloma ◽  
Molecular Characterization ◽  
Liquid Biopsy ◽  
Clinical Care ◽  
Buffy Coat ◽  
Gene Panel ◽  
Clinical Grade ◽  
Liquid Biopsies ◽  
Validation Data ◽  
Gene Assay

Direct-to-Patient (DTP) Multiple Myeloma (MM) research studies have been launched recently, including PCROWD (NCT02269592), PROMISE (NCT03689595) and the MMRF CureCloud Research Initiative (NCT03657251), aimed at enrolling thousands of individuals from whom comprehensive molecular and immune analyses will be generated from blood specimens and the resulting data aggregated with the correlating clinical information. To support the molecular characterization of liquid biopsies for such DTP efforts, a set of myeloma-specific liquid biopsy approaches were developed. First, a hybrid selection panel was developed that detects somatic variants present in a patient's circulating-free DNA (cfDNA) in 70 commonly altered MM and Clonal Hematopoiesis of Indeterminate Potential (CHIP) genes. For this MM 70-Gene cfDNA Assay, samples are received as blood in a StreckTM tube designed for stabilization of cfDNA and DNA is extracted from buffy coat using magnetic bead-based chemistry. Deep coverage sequencing (80,000x depth) is performed and duplex BAM files generated with UMI alignment and error correction allowing for sensitive detection of clinically relevant variants. Technical validation data on healthy donor cfDNA mixes was generated using samples with a range of cfDNA inputs. This data determined that the assay is capable of achieving &gt;90% sensitivity for detecting somatic events present at 1% variant allele frequency with a specificity of &lt;0.2 false positives per megabase. Using a clinical cohort, we observed a strong correlation between Bone Marrow Aspirate (BMA) and cfDNA samples with the vast majority of variants previously detected in BMA also identified via the MM-70 Gene panel analysis. Interestingly, we also saw evidence of additional somatic variants identified in cfDNA previously undetected in BMA analysis. Because one the aims of this effort is to return results to treating physicians, a clinical-grade (CLIA) pipeline was established. For that CLIA pipeline, the variants reported are a subset of all the events detected by the MM 70-Gene Assay. The events detected in the assay are reviewed by experienced molecular pathologists at the Dana Farber Cancer Institute (DFCI) who have developed a customized reporting process. These reports utilize an internally-developed knowledgebase of variant/gene annotations that leverages the DFCI expertise in hematologic malignancies and myeloma specifically. The reports are then provided back through providers to the patient via the CureCloud system for their use in clinical care and trial identification. In order to complement the MM-70 Gene panel with copy number and translocation information, we have been exploring Circulating Multiple Myeloma Cells (CMMCs). Our current approach involves automated capture of CMMCs using ferrofluids coated with MM-selective and discriminating antibodies to immunomagnetically enrich circulating plasma cells. The highly enriched CMMCs fractions generated in such a fashion are then submitted for molecular characterization. At the submission date of this abstract, 163 patients have been fully enrolled into CureCloud from which results will be presented. In summary, we have developed a robust and very sensitive clinical-grade next-gen liquid biopsy sequencing platform allowing for minimally invasive monitoring of MM disease genomics that can be used to complement other more classical approaches and to help support our Direct-To-Patient Initiatives. Especially in this post-COVID19 era, such liquid biopsy-based approaches that avoid clinic visits for the patients and can be performed through at-home mobile phlebotomy are emerging as important new options. Disclosures Kim: LabCorp: Consultancy; Quanterix, Inc: Consultancy; PapGene, Inc: Consultancy. Ghobrial:AbbVie: Consultancy; GNS Healthcare: Consultancy; GlaxoSmithKline: Consultancy; Genentech: Consultancy; Noxxon Pharma: Consultancy; Novartis: Consultancy; Adaptive Biotechnologies: Consultancy, Honoraria; Sanofi: Consultancy, Honoraria; Celgene: Consultancy, Honoraria; Bristol-Myers Squibb: Consultancy, Honoraria; Janssen: Consultancy, Honoraria; Takeda: Consultancy, Honoraria; Cellectar: Honoraria; Karyopharm Therapeutics: Consultancy, Honoraria; Amgen: Consultancy, Honoraria.

Pan-tumor analyses of kinase fusions detected in circulating tumor DNA (ctDNA) and concordance with paired tissue.

2020 ◽  
Vol 38 (15_suppl) ◽  
pp. 3517-3517
Author(s):  
Jessica Kim Lee ◽  
Daniel Lieber ◽  
Russell Madison ◽  
Jon Chung ◽  
Alexa Betzig Schrock ◽  
...  
Keyword(s):  
Bladder Cancer ◽  
Median Time ◽  
Liquid Biopsy ◽  
Clinical Care ◽  
Driver Mutations ◽  
Gene Fusions ◽  
Sample Collection ◽  
Liquid Biopsies ◽  
Kinase Gene ◽  
Tissue Samples

3517 Background: Oncogenic kinase gene fusions are targetable with approved and investigational therapies and can also emerge as acquired resistance (AR) to targeted therapy. To understand the clinical validity of liquid biopsy comprehensive genomic profiling (CGP) to detect kinase fusions, we compared patient-matched plasma and tissue-based CGP. Methods: Hybrid capture-based CGP was performed on 28,743 plasma and 325,131 tumor tissue samples in the course of clinical care. Complete exonic regions of 13 kinases involved in oncogenic fusions plus select introns in ALK, EGFR, FGFR2/3, PDGFRA, RET, and ROS1 were sequenced to capture fusions with well characterized breakpoints. ctDNA fraction was estimated by maximum somatic allele frequency (MSAF). Results: 86% of cases had detectable ctDNA in plasma (MSAF > 0). Kinase fusions were detected in 2.1% of ctDNA cases (478/23,294) and were most prevalent in patients (pts) with bladder cancer (4.5%), non-small cell lung cancer (NSCLC) (4.3%), and cholangiocarcinoma (3.9%). The most commonly rearranged kinases were ALK (60%, 162/271) and RET (19%, 51/271) in NSCLC, FGFR2 (85%, 11/13) in cholangiocarcinoma, and FGFR3 (88%, 7/8) in bladder cancer. ALK fusions were detected in 26% (54/207) of fusion+ non-NSCLC cases. Paired tissue and ctDNA samples where ≥1 sample harbored a kinase fusion were available for 147 pts; median time between sample collection was 150 days (interquartile range: 444 days). Positive percent agreement (PPA) to tissue and liquid biopsies was 76% and 80%. Median MSAF in concordant and discordant ctDNA samples was 2.3% and 0.41% (p = 0.04) and median time between specimen collection for concordant and discordant pairs was 110 and 344 days (p = 0.04). PPA to tissue and liquid was 86% and 88% for pairs collected < 60 days apart (n = 53), versus 70% and 74% for pairs collected > 60 days apart. 6 pts with paired samples all collected > 196 days apart (median 593 days) had initial tissue samples with EGFR driver mutations and had an acquired kinase fusion (4 ALK, 1 FGFR2, 1 FGFR3) in the 2nd ctDNA sample, likely representing AR. Conclusions: Kinase gene fusions identified by tissue-based CGP were detected by liquid biopsy CGP in 85% of temporally-matched plasma samples. Kinase fusion detection by liquid biopsy CGP is feasible and had high PPA to tissue-based CGP. Subsequent sampling by liquid biopsy identified acquired fusions in EGFR driver positive cases consistent with known mechanisms of resistance to EGFR inhibitors suggesting utility of liquid biopsy at progression to identify targetable mechanisms of AR.

Update on Lung Cancer and Treatment Strategies

2016 ◽  
Vol I (!) ◽  
pp. 1-11
Author(s):  
Gul Shehnaz ◽  
Akhtar Muhammad ◽  
Abdullah ◽  
Muhammad Ilyas
Keyword(s):  
Lung Cancer ◽  
Liquid Biopsy ◽  
Treatment Strategies ◽  
Invasive Technique ◽  
Molecular Alteration ◽  
Tumor Biopsy ◽  
Patients With Cancer ◽  
Scientific World ◽  
Speed Up ◽  
Healthy Persons

With the discovery of EGFR, it is now quite possible for the scientific world to treat patients with personalized medicine. Liquid biopsy is the invasive technique used to characterize human tumors by examining human body fluid. Different biomarkers are used to analyze tumor cells, but the most common of them is cell-free DNA. Liquid biopsy can identify tumor biomarkers to identify cancer of the lung at the start of the disease. In past studies, it was ascertained that plasma cfDNA concentration in patients with cancer is more in contrast to healthy persons. Numerous analytical ways have been synthesized to know molecular alteration through liquid biopsy. Molecular identification quantification assay as ddPCR make harmony in the detection of changes speed up against with a tumor biopsy. Different biomarkers that are used in liquid lung biopsy are Floating cfDNA and ctDNA, methylated ctDNA, CTCs in lung cancer, exosomes, TEP, and Circulating RNAs.

scholarly journals A Review of Circulating Tumour Cell Enrichment Technologies

Cancers ◽  
2021 ◽  
Vol 13 (5) ◽  
pp. 970 ◽  
Author(s):  
Amelia J. Rushton ◽  
Georgios Nteliopoulos ◽  
Jacqueline A. Shaw ◽  
R. Charles Coombes
Keyword(s):  
Metastatic Breast ◽  
Label Free ◽  
Liquid Biopsies ◽  
Cellsearch System ◽  
Blood Draw ◽  
Patients With Cancer ◽  
Advantages And Disadvantages ◽  
Fda Approval ◽  
Wide Range ◽  
Circulating Tumour Cell

Circulating tumour cells (CTCs) are the precursor cells for the formation of metastatic disease. With a simple blood draw, liquid biopsies enable the non-invasive sampling of CTCs from the blood, which have the potential to provide important insights into cancer detection and monitoring. Since gaining FDA approval in 2004, the CellSearch system has been used to determine the prognosis of patients with metastatic breast, prostate and colorectal cancers. This utilises the cell surface marker Epithelial Cell Adhesion Molecule (EpCAM), to enrich CTCs, and many other technologies have adopted this approach. More recently, the role of mesenchymal-like CTCs in metastasis formation has come to light. It has been suggested that these cells are more aggressive metastatic precursors than their epithelial counterparts; however, mesenchymal CTCs remain undetected by EpCAM-based enrichment methods. This has prompted the development of a variety of ‘label free’ enrichment technologies, which exploit the unique physical properties of CTCs (such as size and deformability) compared to other blood components. Here, we review a wide range of both immunocapture and label free CTC enrichment technologies, summarising the most significant advantages and disadvantages of each. We also highlight the important characteristics that technologies should possess for routine clinical use, since future developments could have important clinical implications, with the potential to direct personalised therapies for patients with cancer.

Adoption of immunotherapy into real-world practice: Insights from the use of checkpoint inhibitors.

2017 ◽  
Vol 35 (15_suppl) ◽  
pp. e14583-e14583 ◽  
Author(s):  
Jeremy O'Connor ◽  
Kathi Seidl-Rathkopf ◽  
Paul You ◽  
Nathan C. Nussbaum ◽  
Aracelis Z. Torres ◽  
...  
Keyword(s):  
Real World ◽  
Older Persons ◽  
Checkpoint Inhibitors ◽  
National Sample ◽  
Chi Square ◽  
Patients With Cancer ◽  
Fda Approval ◽  
Programmed Death ◽  
Programmed Death 1 ◽  
The Impact

e14583 Background: Cancer research has been criticized regarding the generalizability of trials to older persons, as well as the timeliness of the impact of new trials on real-world practice. Despite growing enthusiasm about programmed death 1 checkpoint inhibitors (anti-PD1s), little is known about the speed with which these drugs are adopted into real-world practice, or whether anti-PD1 treated patients in real-world practice are older than patients treated in trials. Methods: We used retrospective data from Flatiron Health’s electronic health record database, which includes 250 cancer clinics and 1.5 million patients with cancer. We identified patients diagnosed after January 1, 2011 who underwent systemic therapy for: advanced melanoma (n=1,670), advanced non-small cell lung cancer (aNSCLC; n=19,536), or metastatic renal cell carcinoma (mRCC; n=2,018). Then, we determined the proportion treated with anti-PD1s in the 2nd line or later following US Food and Drug Administration (FDA) approval. Therapy lines containing study drugs were excluded. Chi-square tests were used to compare age distributions of patients treated in real-world practice to patients treated in trials that support FDA approval. Results: At 6 months following FDA approval, 71.9% of patients with melanoma undergoing treatment were receiving anti-PD1s, versus 33.0% of patients with aNSCLC and 46.0% of patients with mRCC. Within 1 year, more than half of all treated patients with these 3 cancers were receiving anti-PD1s (71.0% in melanoma; 51.4% in aNSCLC; and 51.8% in mRCC). The median ages at first receipt of anti-PD1s were ≥65 years (65.1 years in melanoma; 67.9 years in aNSCLC; 66.0 years in mRCC). Anti-PD1 treated patients were significantly older in real-world practice than patients treated in trials (Table: all p<0.001). Conclusions: In a large national sample of patients with cancer, anti-PD1s were adopted rapidly into real-world practice. Compared to patients treated in real-world practice, older patients were underrepresented in clinical trials. [Table: see text]

scholarly journals Liquid Biomarkers for Improved Diagnosis and Classification of CNS Tumors

2021 ◽  
Vol 22 (9) ◽  
pp. 4548
Author(s):  
Severa Bunda ◽  
Jeffrey A. Zuccato ◽  
Mathew R. Voisin ◽  
Justin Z. Wang ◽  
Farshad Nassiri ◽  
...  
Keyword(s):  
Liquid Biopsy ◽  
Cns Tumors ◽  
Invasive Technique ◽  
Liquid Biopsies ◽  
Major Step ◽  
Tumor Biopsy ◽  
Non Invasive ◽  
Diagnosis And Classification ◽  
Cns Malignancies

Liquid biopsy, as a non-invasive technique for cancer diagnosis, has emerged as a major step forward in conquering tumors. Current practice in diagnosis of central nervous system (CNS) tumors involves invasive acquisition of tumor biopsy upon detection of tumor on neuroimaging. Liquid biopsy enables non-invasive, rapid, precise and, in particular, real-time cancer detection, prognosis and treatment monitoring, especially for CNS tumors. This approach can also uncover the heterogeneity of these tumors and will likely replace tissue biopsy in the future. Key components of liquid biopsy mainly include circulating tumor cells (CTC), circulating tumor nucleic acids (ctDNA, miRNA) and exosomes and samples can be obtained from the cerebrospinal fluid, plasma and serum of patients with CNS malignancies. This review covers current progress in application of liquid biopsies for diagnosis and monitoring of CNS malignancies.

scholarly journals What Do We Have to Know about PD-L1 Expression in Prostate Cancer? A Systematic Literature Review. Part 7: PD-L1 Expression in Liquid Biopsy

2021 ◽  
Vol 11 (12) ◽  
pp. 1312
Author(s):  
Andrea Palicelli ◽  
Martina Bonacini ◽  
Stefania Croci ◽  
Alessandra Bisagni ◽  
Eleonora Zanetti ◽  
...  
Keyword(s):  
Prostate Cancer ◽  
Literature Review ◽  
Systematic Literature Review ◽  
Liquid Biopsy ◽  
Cell Function ◽  
Current Knowledge ◽  
Checkpoint Inhibitors ◽  
Response To Treatment ◽  
Tumor Evolution ◽  
Liquid Biopsies

Liquid biopsy is an accessible, non-invasive diagnostic tool for advanced prostate cancer (PC) patients, potentially representing a real-time monitoring test for tumor evolution and response to treatment through the analysis of circulating tumor cells (CTCs) and exosomes. We performed a systematic literature review (PRISMA guidelines) to describe the current knowledge about PD-L1 expression in liquid biopsies of PC patients: 101/159 (64%) cases revealed a variable number of PD-L1+ CTCs. Outcome correlations should be investigated in larger series. Nuclear PD-L1 expression by CTCs was occasionally associated with worse prognosis. Treatment (abiraterone, enzalutamide, radiotherapy, checkpoint-inhibitors) influenced PD-L1+ CTC levels. Discordance in PD-L1 status was detected between primary vs. metastatic PC tissue biopsies and CTCs vs. corresponding tumor tissues. PD-L1 is also released by PC cells through soluble exosomes, which could inhibit the T cell function, causing immune evasion. PD-L1+ PC-CTC monitoring and genomic profiling may better characterize the ongoing aggressive PC forms compared to PD-L1 evaluation on primary tumor biopsies/prostatectomy specimens (sometimes sampled a long time before recurrence/progression). Myeloid-derived suppressor cells and dendritic cells (DCs), which may have immune-suppressive effects in tumor microenvironment, have been found in PC patients circulation, sometimes expressing PD-L1. Occasionally, their levels correlated to clinical outcome. Enzalutamide-progressing castration-resistant PC patients revealed increased PD-1+ T cells and circulating PD-L1/2+ DCs.

Chasing ctDNA in Patients With Sarcoma

2020 ◽  
pp. e351-e360
Author(s):  
Catherine C. Coombs ◽  
Tony Dickherber ◽  
Brian D. Crompton
Keyword(s):  
Early Detection ◽  
Peripheral Blood ◽  
Liquid Biopsy ◽  
New Technologies ◽  
Clinical Care ◽  
Treatment Monitoring ◽  
Liquid Biopsies ◽  
Early Detection Of Disease ◽  
Selection For ◽  
Oncology Practice

Liquid biopsies are new technologies that allow cancer profiling of tumor fragments found in body fluids, such as peripheral blood, collected noninvasively from patients with malignancies. These assays are increasingly valuable in clinical oncology practice as prognostic biomarkers, as guides for therapy selection, for treatment monitoring, and for early detection of disease progression and relapse. However, application of these assays to rare cancers, such as pediatric and adult sarcomas, have lagged. In this article, we review the technical challenges of applying liquid biopsy technologies to sarcomas, provide an update on progress in the field, describe common pitfalls in interpreting liquid biopsy data, and discuss the intersection of sarcoma clinical care and commercial assays emerging on the horizon.

Sign in / Sign up

Export Citation Format

Share Document