Multiplex detection of ten mutations and E17K in breast cancer using digital PCR.

Introduction: mutations are now established as a key mechanism of resistance to endocrine therapy in estrogen-receptor-positive breast cancer (ER​+ ​breast cancer) and their sensitive and specific detection in plasma-cell free DNA (plasma-cfDNA) is crucial to monitor during patient treatment. In the present proof-of-principle study, we evaluated the performance of a novel multiplex assay (12plex) for the detection of ten mutations and E17K in plasma-cfDNA based on Crystal Digital PCR® (Stilla Technologies, France).

Materials & Methods: We analyzed 35 plasma-cfDNA samples from ER+ ​breast cancer patients and 10 samples from healthy donors and further compared the results with our previously reported NAPA assay for D538G, Y537S, Y537C and Y537 N mutations.

Adjuvant taxane-based chemotherapy treatment in older patients with early breast cancer: A pooled analysis of five phase III trials from the Hellenic Oncology Research Group.

Introduction: The use of taxanes in the adjuvant setting of early breast cancer (BC) confers survival benefits, however, their role in older patients merits further study. This retrospective pooled analysis of randomized controlled trials conducted by the Hellenic Oncology Research Group (HORG) aims to assess the efficacy and safety of taxane-based adjuvant chemotherapy in older women with BC.

Materials And Methods: Five phase III trials containing a taxane, conducted by HORG between 1995 and 2013, were included in a patient-data pooled analysis.

Real-world treatment patterns in patients with non-metastatic non-small cell lung cancer in Greece: the 'EVIDENCE' study.

Background: The treatment landscape of non-metastatic non-small cell lung cancer (NM-NSCLC) is rapidly evolving with recent approvals of immunotherapies and targeted therapies.

Methods: This retrospective study included 202 adults diagnosed with NM-NSCLC between 1 January 2018 and 31 December 2020 primarily aiming to capture initial management strategies.

Results: Most frequent treatment patterns among Stage I/II patients ( = 84) were surgery only (48.

Promoter Methylation as a Biomarker for Metastatic Risk in a Cohort of Non-Small Cell Lung Cancer Patients.

Liquid biopsy enables real-time monitoring of tumor development and response to therapy through the analysis of CTCs and ctDNA. NALCN is a sodium leak channel that is frequently involved in tumor evolution and immunity and acts as a tumor suppressor. Deletion of NALCN has been shown to increase cancer metastasis and the number of CTCs in peripheral blood.

Genomic scarring score predicts the response to PARP inhibitors in non-small cell lung cancer.

PARP inhibitors (PARPi) have shown efficacy in tumours harbouring mutations in homologous recombination repair (HRR) genes. Somatic HRR mutations have been described in patients with Non-Small Cell Lung Cancer (NSCLC), but PARP inhibitors (PARPi) are not yet a therapeutic option. Here we assessed the homologous recombination status of early-stage NSCLC and explored the therapeutic benefit of PARPi in preclinical models.

Integrative analysis of circulating tumor cells (CTCs) and exosomes from small-cell lung cancer (SCLC) patients: a comprehensive approach.

The increased metastatic ability of small-cell lung cancer (SCLC) necessitates the identification of new prognostic biomarkers for clinical evaluation during the disease course. Our previous research highlighted the clinical relevance of transcription factor JunB (JUNB), C-X-C chemokine receptor type 4 (CXCR4), and programmed cell death 1 ligand 1 (PD-L1) in breast and non-small cell lung cancer (NSCLC) patients. In the current study, we examined these biomarkers in circulating tumor cells (CTCs) and plasma-derived exosomes from 100 treatment-naïve SCLC patients.

The Impact of Expert Pathology Review and Molecular Diagnostics on the Management of Sarcoma Patients: A Prospective Study of the Hellenic Group of Sarcomas and Rare Cancers.

Precise classification of sarcomas is crucial to optimal clinical management. In this prospective, multicenter, observational study within the Hellenic Group of Sarcoma and Rare Cancers (HGSRC), we assessed the effect of expert pathology review, coupled with the application of molecular diagnostics, on the diagnosis and management of sarcoma patients. Newly diagnosed sarcoma patients were addressed by their physicians to one of the two sarcoma pathologists of HGSRC for histopathological diagnostic assessment.

LKB1 Loss Correlates with STING Loss and, in Cooperation with β-Catenin Membranous Loss, Indicates Poor Prognosis in Patients with Operable Non-Small Cell Lung Cancer.

To investigate the incidence and prognostically significant correlations and cooperations of LKB1 loss of expression in non-small cell lung cancer (NSCLC), surgical specimens from 188 metastatic and 60 non-metastatic operable stage I-IIIA NSCLC patients were analyzed to evaluate their expression of LKB1 and pAMPK proteins in relation to various processes. The investigated factors included antitumor immunity response regulators STING and PD-L1; pro-angiogenic, EMT and cell cycle targets, as well as metastasis-related (VEGFC, PDGFRα, PDGFRβ, p53, p16, Cyclin D1, ZEB1, CD24) targets; and cell adhesion (β-catenin) molecules. The protein expression levels were evaluated via immunohistochemistry; the RNA levels of LKB1 and NEDD9 were evaluated via PCR, while KRAS exon 2 and BRAF mutations were evaluated by Sanger sequencing.

Comprehensive Analysis of CXCR4, JUNB, and PD-L1 Expression in Circulating Tumor Cells (CTCs) from Prostate Cancer Patients.

CXCR4, JUNB and PD-L1 are implicated in cancer progression and metastasis. The current study investigated these biomarkers in CTCs isolated from metastatic prostate cancer (mPCa) patients at the RNA and protein levels. CTCs were isolated from 48 mPCa patients using the Ficoll density gradient and ISET system (17 out of 48).

Distinct profiles of proliferating CD8+/TCF1+ T cells and CD163+/PD-L1+ macrophages predict risk of relapse differently among treatment-naïve breast cancer subtypes.

Immunophenotypic analysis of breast cancer microenvironment is gaining attraction as a clinical tool improving breast cancer patient stratification. The aim of this study is to evaluate proliferating CD8 + including CD8 + TCF1 + Τ cells along with PD-L1 expressing tissue-associated macrophages among different breast cancer subtypes. A well-characterized cohort of 791 treatment-naïve breast cancer patients was included.

Liquid biopsy for the management of NSCLC patients under osimertinib treatment.

Therapeutic management of NSCLC patients is quite challenging as they are mainly diagnosed at a late stage of disease, and they present a high heterogeneous molecular profile. Osimertinib changed the paradigm shift in treatment of mutant NSCLC patients achieving significantly better clinical outcomes. To date, osimertinib is successfully administered not only as first- or second-line treatment, but also as adjuvant treatment while its efficacy is currently investigated during neoadjuvant treatment or in stage III, unresectable mutant NSCLC patients.

Development and Validation of a Novel Dual-Drop-off ddPCR Assay for the Simultaneous Detection of Ten Hotspots Mutations.

Breast cancer is the leading cause of cancer-related deaths in women worldwide. Approximately 40% of patients with hormone receptor-positive, human epidermal growth factor receptor-2-negative breast cancer have activating mutations in the gene. We developed a highly sensitive, specific, cost-effective, and reproducible dual-drop-off droplet digital polymerase chain reaction (PCR) assay for the simultaneous detection of ten hotspots of mutations in plasma cell-free (cf) DNA.

Immune Checkpoint and EMT-Related Molecules in Circulating Tumor Cells (CTCs) from Triple Negative Breast Cancer Patients and Their Clinical Impact.

Triple negative breast cancer (TNBC) is the most aggressive breast cancer subtype. There are few targeted therapies for these patients, leading to an unmet need for new biomarkers. The present study aimed to investigate the expression of PD-L1, CTLA-4, GLU, and VIM in CTCs of TNBC patients.

Preoperative Mutational Analysis of Circulating Tumor Cells (CTCs) and Plasma-cfDNA Provides Complementary Information for Early Prediction of Relapse: A Pilot Study in Early-Stage Non-Small Cell Lung Cancer.

Purpose: We assessed whether preoperativemutational analyses of circulating tumor cells (CTCs) and plasma-cfDNA could be used as minimally invasive biomarkers and as complimentary tools for early prediction of relapse in early-stage non-small -cell lung cancer (NSCLC).

Experimental Design: Using ddPCR assays, hotspot mutations of and were identified in plasma-cfDNA samples and size-based enriched CTCs isolated from the same blood samples of 49 early-stage NSCLC patients before surgery and in a control group of healthy blood donors (= 22). Direct concordance of the mutational spectrum was further evaluated in 27 patient-matched plasma-cfDNA and CTC-derived DNA in comparison to tissue-derived DNA.

Comprehensive liquid biopsy analysis as a tool for the early detection of minimal residual disease in breast cancer.

Liquid biopsy (LB) provides a unique minimally invasive tool to follow-up cancer patients over time, to detect minimal residual disease (MRD), to study metastasis-biology and mechanisms of therapy-resistance. Molecular characterization of CTCs offers additionally the potential to understand resistance to therapy and implement individualized targeted treatments which can be modified during the disease evolution and follow-up period of a patient. In this study, we present a long-term follow-up of operable breast cancer patients based on a comprehensive liquid biopsy analysis.

Evidence-Based Conceptual Collection of Methods for Spatial Epidemiology and Analysis to Enhance Cancer Surveillance and Public Health.

(1) Background: Although spatial statistics are often used by cancer epidemiologists, there is not yet an established collection of methods to serve their needs. We aimed to develop an evidence-based cancer-oriented conceptual collection of methods for spatial analysis; (2) Methods: A triangulation of approaches was used; literature review, consensus meetings (expert panel), and testing the selected methods on "training" databases. The literature review was conducted in three databases.