Predictive molecular pathology of lung cancer in Germany with focus on gene fusion testing: Methods and quality assurance

• Published in: Cancer cytopathology 2020-09, Vol.128 (9), p.611-621
• Main Authors: Siemanowski, Janna, Heydt, Carina, Merkelbach‐Bruse, Sabine
• Format: Article
• Language: English
• Subjects: Biomarkers, Tumor - genetics; Cytodiagnosis - methods; Gene Fusion; Germany - epidemiology; Humans; immunohistochemistry; in situ hybridization; Lung cancer; Lung Neoplasms - epidemiology; Lung Neoplasms - genetics; Lung Neoplasms - pathology; Molecular Diagnostic Techniques - methods; molecular pathology; parallel sequencing; Pathology, Molecular - methods; Predictive Value of Tests; Quality control
• ISSN: 1934-662X; 1934-6638
• DOI: 10.1002/cncy.22293

Predictive molecular testing has become an important part of the diagnosis of any patient with lung cancer. Using reliable methods to ensure timely and accurate results is inevitable for guiding treatment decisions. In the past few years, parallel sequencing has been established for mutation testing, and its use is currently broadened for the detection of other genetic alterations, such as gene fusion and copy number variations. In addition, conventional methods such as immunohistochemistry and in situ hybridization are still being used, either for formalin‐fixed, paraffin‐embedded tissue or for cytological specimens. For the development and broad implementation of such complex technologies, interdisciplinary and regional networks are needed. The Network Genomic Medicine (NGM) has served as a model of centralized testing and decentralized treatment of patients and incorporates all German comprehensive cancer centers. Internal quality control, laboratory accreditation, and participation in external quality assessment is mandatory for the delivery of reliable results. Here, we provide a summary of current technologies used to identify patients who have lung cancer with gene fusions, briefly describe the structures of NGM and the national NGM (nNGM), and provide recommendations for quality assurance. Standard methods for fusion testing such as immunohistochemistry and in situ hybridization are complemented by new parallel sequencing approaches in routine molecular pathology diagnostics for tissue and cytological specimens. The implementation of complex technologies requires continuous quality control and networking between institutions.