Diagnosis and treatment monitoring in breast cancer: how liquid biopsy can support patient management

2022 ◽  
Author(s):  
Federico Cucchiara ◽  
Rosa Scarpitta ◽  
Stefania Crucitta ◽  
Cristian Scatena ◽  
Roberta Arici ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Liquid Biopsy ◽  
Patient Management ◽  
Early Stage ◽  
Breast Cancer Diagnosis ◽  
Treatment Monitoring ◽  
Clinical Applications ◽  
Molecular Profile ◽  
Invasive Procedures

Imaging and tissue biopsies represent the current gold standard for breast cancer diagnosis and patient management. However, these practices are time-consuming, expensive and require invasive procedures. Moreover, tissue biopsies do not capture spatial and temporal tumor heterogeneity. Conversely, liquid biopsy, which includes circulating tumor cells, circulating free nucleic acids and extracellular vesicles, is minimally invasive, easy to perform and can be repeated during a patient's follow-up. Increasing evidence also suggests that liquid biopsy can be used to efficiently screen and diagnose tumors at an early stage, and to monitor changes in the tumor molecular profile. In the present review, clinical applications and prospects are discussed.

scholarly journals Liquid Biopsy in Early Breast Cancer: A Preliminary Report

2020 ◽  
pp. 1-8
Author(s):  
Antonio Rulli ◽  
Antognelli Cinzia ◽  
Antonio Rulli ◽  
Covarelli Piero ◽  
Izzo Luciano ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Liquid Biopsy ◽  
Residual Disease ◽  
Early Stage ◽  
Dynamic Monitoring ◽  
Molecular Profile ◽  
Precision Oncology ◽  
Surgical Biopsy ◽  
Post Surgery ◽  
Genetic Landscape

Background: Liquid biopsy (LB) is a technique that utilizes circulating biomarkers from cancer patients to provide information regarding the genetic landscape of the cancer. LB is emerging as an alternative and complementary diagnostic and prognostic tool to surgical biopsy and is expected to provide the tool for the implementation of precision oncology in clinical settings. In fact, it may contribute to enhance understanding of tumor heterogeneity and permitting the dynamic monitoring of treatment responses and genomic variations. Thus, LB is a promising method for the management of cancer, including breast cancer (BC), whose incidence in Italy is progressively increasing. Previous studies focused mainly on patients with advanced-stage BC. In the present study we evaluated the number of circulating tumor cells (CTCs), the quantity of cell free tumor DNA (cftDNA) and the analysis of the mutational profile of DNA from CTCs (ctcDNA) and cftDNA in early stage BC patients. Methods: Matched pre- and post-surgery blood samples were collected from 47 early stage BC patients. CTCs enumeration was done using Isoflux system, molecular profile of ctcDNA and cftDNA was performed with the Spotlight 59 Panels kit on a MiSeq Illumina instrument. Results: Eighty percent of samples was CTCs-positive, while healthy controls were all CTCs-negative. Forty-four patients provided a pre-surgery and 21 post-surgery sample. By comparing the number of CTCs post-surgery with that of pre-surgery, we found that 66% of patients showed a decreased number of CTCs, 14% of patients continued to have the same number of CTCs, while, interestingly, 19% of patients showed an increased number of CTCs. Next Generation Sequencing (NGS) of ctcDNA and cftDNA showed that 52% of samples had mutations in 9 genes (TP53, CDKN2A, FBXW7, PTPN11, KRAS, NRAS, BRAF, IDH1, ALK) and in 5 genes (PIK3CA, APC ALK, KRAS, TSC1), respectively, with KRAS and ALK overlapping and TP53 being the most frequently mutated gene in ctcDNA analysis. Conclusions: LB could facilitate early detection of minimal residual disease, aiding in the initiation of adjuvant therapy to prevent recurrence and progression towards metastasis, enhance individualized treatment and longitudinal screening, thus improving the clinical management and outcome of patients with early BC.

scholarly journals Liquid biopsy in early breast cancer. A preliminary report

2019 ◽  
Author(s):  
ANTONIO RULLI ◽  
CINZIA ANTOGNELLI ◽  
ANNAMARIA SIGGILLINO ◽  
VINCENZO TALESA ◽  
ZAYIK SVITLANA ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Liquid Biopsy ◽  
Residual Disease ◽  
Early Stage ◽  
Dynamic Monitoring ◽  
Molecular Profile ◽  
Precision Oncology ◽  
Surgical Biopsy ◽  
Post Surgery ◽  
Genetic Landscape

Abstract Background Liquid biopsy (LB) is a technique that utilizes circulating biomarkers from cancer patients to provide information regarding the genetic landscape of the cancer. LB is emerging as an alternative and complementary diagnostic and prognostic tool to surgical biopsy and is expected to provide the tool for the implementation of precision oncology in clinical settings. In fact, it may contribute to enhance understanding of tumor heterogeneity and permitting the dynamic monitoring of treatment responses and genomic variations. Thus, LB is a promising method for the management of cancer, including breast cancer (BC), whose incidence in Italy is progressively increasing. Previous studies focused mainly on patients with advanced-stage BC. In the present study we evaluated the number of circulating tumor cells (CTCs), the quantity of cell free tumor DNA (cftDNA) and the analysis of the mutational profile of DNA from CTCs (ctcDNA) and cftDNA in early stage BC patients. Methods Matched pre- and post-surgery blood samples were collected from 47 early stage BC patients. CTCs enumeration was done using Isoflux system, molecular profile of ctcDNA and cftDNA was performed with the Spotlight 59 Panels kit on a MiSeq Illumina instrument. Results Eighty percent of samples was CTCs-positive, while healthy controls were all CTCs-negative. Forty-four patients provided a pre-surgery and 21 post-surgery sample. By comparing the number of CTCs post-surgery with that of pre-surgery, we found that 66% of patients showed a decreased number of CTCs, 14% of patients continued to have the same number of CTCs, while, interestingly, 19% of patients showed an increased number of CTCs. NGS of ctcDNA and cftDNA showed that 52% of samples had mutations in 9 genes (TP53, CDKN2A, FBXW7, PTPN11, KRAS, NRAS, BRAF, IDH1, ALK) and in 5 genes (PIK3CA, APC ALK, KRAS, TSC1), respectively, with KRAS and ALK overlapping and TP53 being the most frequently mutated gene in ctcDNA analysis. Conclusions LB could facilitate early detection of minimal residual disease, aiding in the initiation of adjuvant therapy to prevent recurrence and progression towards metastasis, enhance individualized treatment and longitudinal screening, thus improving the clinical management and outcome of patients with early BC.

scholarly journals The long-term course of fatigue following breast cancer diagnosis

2020 ◽  
Vol 4 (1) ◽  
Author(s):  
Karin Biering ◽  
Morten Frydenberg ◽  
Helle Pappot ◽  
Niels Henrik Hjollund
Keyword(s):  
Breast Cancer ◽  
Time Course ◽  
Breast Cancer Diagnosis ◽  
Patient Characteristics ◽  
Repeated Measurements ◽  
Diagnosis And Treatment ◽  
Persistent Problem ◽  
Treatment Regimens ◽  
Long Time

Abstract Purpose Fatigue following breast cancer is a well-known problem, with both high and persistent prevalence. Previous studies suffer from lack of repeated measurements, late recruitment and short periods of follow-up. The course of fatigue from diagnosis and treatment to the long-time outcome status is unknown as well as differences in the level of fatigue between treatment regimens. The purpose of this study was to describe the long-time course of fatigue from the time of clinical suspicion of breast cancer, its dependence of patient characteristics and treatment regimens and the comparison with the course of fatigue among women with the same suspicion, but not diagnosed with breast cancer. Methods Three hundred thirty-two women referred to acute or subacute mammography was followed with questionnaires from before the mammography and up to 1500 days. Fatigue was measured by the Multidimensional Fatigue Inventory (MFI-20). The women reported their initial level of fatigue before the mammography and thus without knowledge of whether they had cancer or not. Both women with and without cancer were followed. Women with cancer were identified in the clinical database established by Danish Breast Cancer Cooperative Group (DBCG) to collect information on treatment regimen. Results Compared to fatigue scores before diagnosis, women with breast cancer reported a large increase of fatigue, especially in the first 6 months, followed by a slow decrease over time. Despite the long follow-up period, the women with breast cancer did not return to their level of fatigue at time of the mammography. Women without breast cancer, experienced a rapid decrease of fatigue after disproval of diagnosis followed by a steadier period. Conclusions Fatigue is a persistent problem in women diagnosed with breast cancer, even several years following diagnosis and treatment. The women with breast cancer were most affected by fatigue in the first 6 months after diagnosis.

Simple and fast isolation of circulating exosomes with chitosan modified shuttle flow microchip towards breast cancer diagnosis

Lab on a Chip ◽  
2021 ◽  
Author(s):  
Wenwen Chen ◽  
Rongkai Cao ◽  
Wentao Su ◽  
xu zhang ◽  
Yuhai Xu ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Medical Treatment ◽  
Cancer Diagnosis ◽  
Biological Samples ◽  
Early Stage ◽  
Breast Cancer Diagnosis ◽  
Early Stage Cancer ◽  
Tumor Prognosis ◽  
Huge Challenge

Tumor-derived exosomes have been recognized as promising biomarkers for early-stage cancer diagnosis, tumor prognosis monitoring and individual medical treatment. However, separating exosomes from trace biological samples is a huge challenge...

scholarly journals Circulating Cell-Free DNA in Breast Cancer: Searching for Hidden Information towards Precision Medicine

Cancers ◽  
2021 ◽  
Vol 13 (4) ◽  
pp. 728
Author(s):  
Maria Panagopoulou ◽  
Manel Esteller ◽  
Ekaterini Chatzaki
Keyword(s):  
Breast Cancer ◽  
Treatment Options ◽  
Treatment Monitoring ◽  
Circulating Biomarkers ◽  
Hidden Information ◽  
Cell Free Dna ◽  
Free Dna ◽  
Current Review ◽  
Circulating Cell Free Dna

Breast cancer (BC) is a leading cause of death between women. Mortality is significantly raised due to drug resistance and metastasis, while personalized treatment options are obstructed by the limitations of conventional biopsy follow-up. Lately, research is focusing on circulating biomarkers as minimally invasive choices for diagnosis, prognosis and treatment monitoring. Circulating cell-free DNA (ccfDNA) is a promising liquid biopsy biomaterial of great potential as it is thought to mirror the tumor’s lifespan; however, its clinical exploitation is burdened mainly by gaps in knowledge of its biology and specific characteristics. The current review aims to gather latest findings about the nature of ccfDNA and its multiple molecular and biological characteristics in breast cancer, covering basic and translational research and giving insights about its validity in a clinical setting.

Protein biomarkers in breast cancer-derived extracellular vesicles for use in liquid biopsies

2021 ◽  
Author(s):  
Dan Li ◽  
Wenjia Lai ◽  
Di Fan ◽  
Qiaojun Fang
Keyword(s):  
Breast Cancer ◽  
Early Diagnosis ◽  
Extracellular Vesicles ◽  
Liquid Biopsy ◽  
Breast Cancer Diagnosis ◽  
Extracellular Vesicle ◽  
Detection Methods ◽  
Protein Markers ◽  
Liquid Biopsies ◽  
Diagnosis And Prognosis

Breast cancer is the most common malignant disease in women worldwide. Early diagnosis and treatment can greatly improve the management of breast cancer. Liquid biopsies are becoming convenient detection methods for diagnosing and monitoring breast cancer due to their non-invasiveness and ability to provide real-time feedback. A range of liquid biopsy markers, including circulating tumor proteins, circulating tumor cells, and circulating tumor nucleic acids, have been implemented for breast cancer diagnosis and prognosis, with each having its own advantages and limitations. Circulating extracellular vesicles are messengers of intercellular communication that are packed with information from mother cells and are found in a wide variety of bodily fluids; thus, they are emerging as ideal candidates for liquid biopsy biomarkers. In this review, we summarize extracellular vesicle protein markers that can be potentially used for the early diagnosis and prognosis of breast cancer or determining its specific subtypes.

scholarly journals Intraoperative radiation therapy for early stage breast cancer: experiences from Iran

2020 ◽  
Author(s):  
Vahid Zangouri ◽  
Hamid Nasrollahi ◽  
Ali Taheri ◽  
Majid Akrami ◽  
Peyman Arasteh ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Radiation Therapy ◽  
Patient Selection ◽  
Tumor Size ◽  
Ductal Carcinoma ◽  
Early Stage ◽  
Intraoperative Radiation Therapy ◽  
Study Patient ◽  
Intraoperative Radiation

Abstract Background and objective Currently no definite guideline exists on the use of intraoperative radiation therapy (IORT) among patients with early stage BC. We report our experiences with IORT among breast cancer (BC) patients in our region.Methods All patient who received radical IORT from April 2014 on to March 2020 were included in the study. Patient selection criteria were as followed: age equal or older than 45 years old; all cases of invasive carcinomas, moreover in lobular carcinomas only after MRI and confirmation, and in cases with ductal carcinoma in-situ (DCIS) only those with low, intermediate grade, tumor size of equal or less than 2.5cm and a margin of 2-3mm; those between 45 and 50 years old with a tumor size of 0-2cm, those between 50 and 55 years old with a tumor size of 2-2.5cm, and those ≥55 years old with a tumor size of 2.5-3cm; those with invasive tumors a negative margin and in cases of DCIS a margin of 3mm; a negative nodal status (exception in patients with micrometastasis); and a positive estrogen receptor status. Results Overall, 252 patients entered the study. Mean (SD) age of patients was 56.43±7.79 years. In total, 32.9% of patients had a family history of BC. Mean tumor size was 1.56±0.55 cm. Median (IQR) follow-up of patients was 24 (13, 36) months. Overall, 6 patients (2.4%) experienced recurrence in follow-up visits, among which three (1.2%) were local recurrence, two (0.8%) were regional recurrence and one patients (0.4%) had metastasis.Median (IQR) time to recurrence was 23 (13, 36) among the six patient who had recurrence. Overall, 11 patients (4.3%) with DCIS in our study received IORT. All these patients had free margins in histopathology examination. None of these patients experience recurrence.Conclusion For the first time, we categorized patients according to age and tumor size and older patients with larger tumor sizes were considered appropriate candidates for IORT. Our series showed a successful experience with the use of IORT in a region where facilities for IORT are limited using our modified criteria for patient selection.

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