The Advantage of Targeted Next-Generation Sequencing over qPCR in Testing for Druggable Variants in Non-Small-Cell Lung Cancer.

The emergence of targeted therapies in non-small-cell lung cancer (NSCLC), including inhibitors of epidermal growth factor receptor (EGFR) tyrosine kinase, has increased the need for robust companion diagnostic tests. Nowadays, detection of actionable variants in exons 18-21 of the gene by qPCR and direct DNA sequencing is often replaced by next-generation sequencing (NGS). In this study, we evaluated the diagnostic usefulness of targeted NGS for druggable variants testing in clinical NSCLC material previously analyzed by the IVD-certified qPCR test with respect to DNA reference material.

Detection of EGFR mutations in liquid biopsy samples using allele-specific quantitative PCR: A comparative real-world evaluation of two popular diagnostic systems.

Purpose: The detection of epidermal growth factor receptor (EGFR) mutations in plasma cell-free DNA (cfDNA) is an auxiliary tool for the molecular diagnosis of non-small cell lung cancer (NSCLC), especially when an adequate tumor tissue specimen cannot be obtained. We compared the diagnostic accuracy of two commonly used in vitro diagnostic-certified allele-specific quantitative PCR assays for detecting plasma cfDNA EGFR mutations.

Methods: We analyzed EGFR mutations in plasma cfDNA from 90 NSCLC patients (stages I-IV) before treatment (n ​= ​60) and after clinical progression on EGFR tyrosine kinase inhibitors (n ​= ​30) using the cobas EGFR mutation test v2 (Roche Molecular Systems, Inc.

[A surprising diagnosis in a male with a tumour of the chest wall--not always lung cancer].

Lung cancer is the most frequent malignant tumour in men. Advanced disease may produce metastatic tumours in subcutaneous tissue and also infiltrate the chest wall. We present a history of a man referred to our department suspected of lung tumour infiltrating the chest wall.

Quantitative analysis of free-circulating DNA in plasma of patients with resectable NSCLC.

Objective: Minute amounts of free-circulating DNA are present in plasma of healthy individuals, whereas its increased concentration was observed in patients with malignant tumors including non-small cell lung cancer (NSCLC). This study aimed at demonstrating the potential usefulness of plasma DNA concentration monitoring in NSCLC patients for therapy effectiveness assessment throughout the treatment and follow-up period.

Methods: Plasma DNA concentration was assessed in 50 NSCLC patients (stage I - IIIA) prior and following the radical treatment using real-time quantitative PCR method.

[Simultaneous detection of tumor cells and the positive result of genetic test for Mycobacterium tuberculosis in pleural effusion].

Pleural effusion is a frequently observed lesion in the course of respiratory diseases such as inflammatory process and cancer metastasis. Its cause may be either tuberculosis (the most common extrapulmonary location is the pleura) and malignant disease of the pleura. Confirmation of tuberculosis is often troublesome.

[Diagnostic difficulties in primary mesothelioma].

A 54-year-old woman with a history of fatigue and shortness of breath was found to have a pericardial effusion and mild mediastinal lymphadenopathy. Video-assisted pericardioscopy revealed thickened pericardium studded with multiple nodules. Histologically the tumor was diagnosed as papillary adenocarcinoma.