scholarly journals Liquid Biopsy Prevents Inaccurate Her2 Status Determination by in situ Hybridization in a Patient with Invasive Ductal Adenocarcinoma of the Breast: Case Report

2017 ◽  
Vol 10 (3) ◽  
pp. 857-862 ◽  
Author(s):  
Yen-Dun Tony  Tzeng ◽  
Shih-En Chang ◽  
Rui Mei ◽  
Manana  Javey 
Keyword(s):  
Case Report ◽  
Liquid Biopsy ◽  
Circulating Tumor Dna ◽  
Cancer Surveillance ◽  
Ductal Adenocarcinoma ◽  
Her2 Status ◽  
Noninvasive Test ◽  
Cancer Management ◽  
Area Of Interest ◽  
Invasive Ductal Adenocarcinoma

Utilization of circulating tumor DNA as a novel and noninvasive test for diagnosis confirmation, therapy selection, and cancer surveillance is a rapidly growing area of interest. In the wake of FDA approval of a liquid biopsy test, it is important for clinicians to acknowledge the obvious clinical utility of liquid biopsy for cancer management throughout the course of the disease. This case report describes a female with invasive ductal adenocarcinoma of the breast, where liquid biopsy was instrumental for her cancer characterization and personalized therapy selection.

scholarly journals Multiplex Enrichment and Detection of Rare KRAS Mutations in Liquid Biopsy Samples using Digital Droplet Pre-Amplification

2018 ◽  
Author(s):  
Erica D. Pratt ◽  
Robert W. Cowan ◽  
Sara L. Manning ◽  
Edmund Qiao ◽  
Heather Cameron ◽  
...  
Keyword(s):  
Single Molecule ◽  
Liquid Biopsy ◽  
High Sensitivity ◽  
Circulating Tumor Dna ◽  
Tumor Burden ◽  
Allelic Frequency ◽  
Cancer Surveillance ◽  
Ductal Adenocarcinoma ◽  
Kras Mutations ◽  
Oncology Research

AbstractOncology research is increasingly incorporating molecular detection of circulating tumor DNA (ctDNA) as a tool for cancer surveillance and early detection. However, non-invasive monitoring of conditions with low tumor burden remains challenging, as the diagnostic sensitivity of most ctDNA assays is inversely correlated with total DNA concentration and ctDNA abundance. Here we present the Multiplex Enrichment using Droplet Pre-Amplification (MED-Amp) method, which com-bines single-molecule emulsification and short-round PCR preamplification with digital droplet PCR (ddPCR) detection of mutant DNA template. The MED-Amp assay increased mutant signal by over 50-fold with minimal distortion in allelic frequency. We demonstrate detection of as few as 3 mutant copies in wild-type DNA concentrations ranging from 5 to 50ng. The MED-Amp assay successfully detected KRAS mutant ctDNA in 86% plasma samples obtained from patients with metastatic pancreatic ductal adenocarcinoma. This assay for high-sensitivity rare variant detection is appropriate for liquid biopsy samples, or other limited clinical biospecimens

Invasive ductal adenocarcinoma arising from heterotopic pancreas in the jejunum: Case report and literature review

2019 ◽  
Vol 52 (3) ◽  
pp. 194-198
Author(s):  
Héctor Rodrigo Lara ◽  
Isabel Amengual Antich ◽  
Adriana Marcela Quintero Duarte ◽  
Carmen De Juan Garcia ◽  
Jose Carlos Rodríguez Pino
Keyword(s):  
Case Report ◽  
Literature Review ◽  
Heterotopic Pancreas ◽  
Ductal Adenocarcinoma ◽  
Invasive Ductal Adenocarcinoma

scholarly journals A Case Report of Invasive Ductal Adenocarcinoma Identified in a Lymphatic Channel: A Staging Controversy

2003 ◽  
Vol 10 (5) ◽  
pp. 411-413
Author(s):  
James W. Jakub ◽  
Francis D. Drake ◽  
Andrew W. Pippas ◽  
Mary Gardner ◽  
Roberto J. Fraile ◽  
...  
Keyword(s):  
Case Report ◽  
Ductal Adenocarcinoma ◽  
Lymphatic Channel ◽  
Invasive Ductal Adenocarcinoma

Circulating Tumor DNA: A Step into the Future of Cancer Management

2019 ◽  
Vol 63 (6) ◽  
pp. 456-465 ◽  
Author(s):  
Joana Fernandes Marques ◽  
Joana Pereira Reis ◽  
Gabriela Fernandes ◽  
Venceslau Hespanhol ◽  
José Carlos Machado ◽  
...  
Keyword(s):  
Liquid Biopsy ◽  
Clinical Utility ◽  
New Technologies ◽  
Therapy Response ◽  
Circulating Tumor Dna ◽  
Sample Collection ◽  
Cancer Management ◽  
The Past ◽  
Ctdna Analysis ◽  
Tumor Dna

Liquid biopsy was introduced to the oncology field with the promise of revolutionizing the management of cancer patients, minimizing the exposure to invasive procedures such as tissue biopsy, and providing reliable information regarding therapy response and detection of disease relapse. Despite the significant increase in the number of published studies on circulating tumor DNA (ctDNA) in the past years, the emphasis of most studies is on the development of new technologies or on the clinical utility of ctDNA. This leaves a clear gap of knowledge concerning the biology of ctDNA, such as the fundamental mechanisms through which DNA from tumor cells is released into the circulation. Moreover, considering that ctDNA analysis is now currently being applied in clinical practice, the need for rigorous quality control is arising, and with it the necessity to standardize procedures, from sample collection to data analysis. This review focuses on the main aspects of ctDNA, including approaches currently available to evaluate tumor genetics, as well as the points that still require improvement in order to make liquid biopsy a key player in precision medicine.

scholarly journals The mutational landscape of gastrointestinal malignancies as reflected by circulating tumor DNA.

2017 ◽  
Vol 35 (15_suppl) ◽  
pp. 11574-11574
Author(s):  
Paul Riviere ◽  
Paul T. Fanta ◽  
Sadakatsu Ikeda ◽  
Joel Micah Baumgartner ◽  
Gregory M. Heestand ◽  
...  
Keyword(s):  
Hepatocellular Carcinoma ◽  
Liquid Biopsy ◽  
Treatment Options ◽  
Circulating Tumor Dna ◽  
Genetic Alterations ◽  
Ductal Adenocarcinoma ◽  
Gastrointestinal Malignancies ◽  
Appendiceal Adenocarcinoma ◽  
Cancer Types ◽  
Tumor Dna

11574 Background: Liquid biopsy of circulating tumor DNA (ctDNA) is a novel method of detecting genetic alterations in cancer patients without tissue acquisition. Methods: Our analysis surveyed the genomic landscape of 213 patients with various gastrointestinal malignancies using next generation sequencing of plasma ctDNA across a 68 gene panel (www.guardanthealth.com/guardant360/). Data analysis was performed following UCSD IRB guidelines for de-identified database (NCT02478931). Results: The most common cancer types were colorectal adenocarcinoma (N = 55 (26%)), appendiceal adenocarcinoma (N = 46 (22%)), hepatocellular carcinoma (N = 31 (15%)), and pancreatic ductal adenocarcinoma (N = 25 (12%)). 70% of patients had discernible alteration(s), and 58% of patients had ≥1 characterized alterations. The median number of characterized alterations per patient was 1 (range 0-13). The number of detected alterations per patient varied between cancer types: in hepatocellular carcinoma, 74% of patients (23/31) had > 1 characterized alteration(s), whereas 76% of patients (35/46) with appendiceal adenocarcinoma had no characterized alterations. Overall, of 123 patients with characterized alterations, > 99% (122/123) had ≥1 hypothetical (experimental or approved) treatment options available. Potentially targetable alterations varied between cancer types, proportionally to the detection rate of characterized alterations. The median percent ctDNA of characterized alterations was 2.50% (IQR 0.76-8.96%). Of interest, 95% of patients (117/123) had distinct molecular portfolios. Altogether, there were 143 unique characterized alterations within 56 genes. Overall concordance rates of 96%, 94%, 95%, and 91%, respectively, were found between ctDNA and tissue biopsy (105 patients) (https://www.foundationmedicine.com/) in the four most common alterations ( KRAS amplification, MYC amplification, KRAS G12V, and EGFR amplification). Conclusions: Our observations suggest that many patients with gastrointestinal tumors have discernible and pharmacologically tractable ctDNA alterations. Hence, ctDNA assessment through non-invasive liquid biopsy may have an important role in clinical practice.

scholarly journals Liquid biopsy assessment of synchronous malignancies: a case report and review of the literature

ESMO Open ◽  
2019 ◽  
Vol 4 (4) ◽  
pp. e000528 ◽  
Author(s):  
Sandra Liebs ◽  
Anika Nonnenmacher ◽  
Frederick Klauschen ◽  
Ulrich Keilholz ◽  
Loredana Vecchione
Keyword(s):  
Case Report ◽  
Liquid Biopsy ◽  
Disease Surveillance ◽  
Clonal Evolution ◽  
Multiple Primary Cancers ◽  
Review Of The Literature ◽  
Liquid Biopsies ◽  
Cancer Management ◽  
Pancreatic Tumour ◽  
Synchronous Malignancies

Assessment of patients with synchronous primary cancers and metastases is challenging, as it can be difficult to assign the metastases to the correct primary due to low differentiation, high similarity on histology or inaccessibility of tumour tissue. Systemic treatment for metastatic disease, however, needs to be directed at the leading histology or cover multiple tumour types with the same regimen. Considering the additional obstacles in cancer management, including tumour heterogeneity and clonal evolution, blood-based genomic profiling (‘liquid biopsy’) is suggested to be a useful tool to provide accessible tumour-derived biomarkers. We herein report a case of a patient with independent primary tumours of the colon and pancreas, as well as liver metastases. All lesions were resected and genotyped revealing KRAS mutations G12C and G12D in the primary tumours, respectively. The G12D mutation detected in the pancreatic tumour was retrieved in the metastasis, thus confirming the pancreatic cancer to be the origin of the liver lesions. The prevalence of the pancreatic tumour was additionally verified by the detection of the G12D variant in circulating cell-free DNA (cfDNA). This case demonstrates the utility of liquid biopsy to identify the predominant tumour burden in patients with multiple primary cancers, based on the detection of the tumour-associated gene mutation in the plasma. Serial monitoring through liquid biopsies might allow disease surveillance to guide cancer management. The review of the literature highlights the importance of liquid biopsies in personalised oncology, even though only one case report refers to the benefit of cfDNA analysis in a patient affected by synchronous primary tumours.

scholarly journals Liquid Biopsy in Breast Cancer: A Focused Review

2020 ◽  
Author(s):  
Timothy Kwang Yong Tay ◽  
Puay Hoon Tan
Keyword(s):  
Breast Cancer ◽  
Liquid Biopsy ◽  
Residual Disease ◽  
Circulating Tumor Dna ◽  
Breast Cancers ◽  
Liquid Biopsies ◽  
Disease Response ◽  
Pik3ca Mutations ◽  
Cancer Management

Context.— The role of liquid biopsy in cancer management has been gaining increased prominence in the past decade, with well-defined clinical applications now being established in lung cancer. Recently, the US Food and Drug Administration also approved the Therascreen PIK3CA RGQ polymerase chain reaction assay as a companion diagnostic assay to detect PIK3CA mutations in breast cancer for both tissue and liquid biopsies, bringing the role of liquid biopsy in breast cancer management to the fore. Its utility in other aspects of breast cancer, however, is yet to be clearly defined. Objective.— To review the studies that looked at liquid biopsies in breast cancer and examine their potential for clinical application in the areas of early diagnosis, prognostication, monitoring disease response, detecting minimal residual disease, and predicting risk of progression or relapse. We focus mainly on circulating tumor cells and circulating tumor DNA. Data sources.— Peer-reviewed articles in PubMed. Conclusions.— Liquid biopsies in breast cancers have yielded promising results, especially in the areas of monitoring treatment response and predicting disease progression or relapse. With further study, and hopefully coupled with continued improvements in technologies that isolate tumor-derived materials, liquid biopsies may go on to play a greater role in the breast cancer clinic.

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