Cristina Teixidó, Ana Giménez-Capitán, Miguel Ángel Molina-Vila, Vicente Peg, Niki Karachaliou, Alejandra Rodríguez-Capote, Josep Castellví, Rafael Rosell1. 1. From the Department of Pathology, Hospital Clínic, Barcelona, Spain (Dr Teixidó); Translational Genomics and Targeted Therapeutics in Solid Tumors, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain (Dr Teixidó); Pangaea Oncology, Oncology Laboratory, Dexeus University Hospital - Quirónsalud Group, Barcelona, Spain (Ms Giménez-Capitán and Drs Molina-Vila, Peg, Karachaliou, Castellví, and Rosell); the Department of Pathology, Hospital Universitario Vall d'Hebron, Universitat Autònoma de Barcelona, Barcelona, Spain (Drs Peg and Castellví); Morphological Sciences Department, Universitat Autònoma de Barcelona, Barcelona, Spain (Drs Peg and Castellví); Institute of Oncology Rosell (IOR), University Hospital Sagrat Cor and Quirónsalud Group, Barcelona, Spain (Drs Karachaliou and Rosell); the Department of Medical Oncology, Canarias University Hospital, San Cristóbal de La Laguna, Tenerife, Spain (Dr Rodríguez-Capote); and Cancer Biology & Precision Medicine Program, Catalan Institute of Oncology, Germans Trias i Pujol Health Sciences Institute and Hospital, Badalona, Spain (Dr Rosell).
Abstract
CONTEXT: - Technologic advances have contributed to the increasing relevance of RNA analysis in clinical oncology practice. The different genetic aberrations that can be screened with RNA include gene fusions and splice variants. Validated methods of identifying these alterations include fluorescence in situ hybridization, immunohistochemistry, reverse transcription-polymerase chain reaction, and next-generation sequencing, which can provide physicians valuable information on disease and treatment of cancer patients. OBJECTIVE: - To discuss the standard techniques available and new approaches for the identification of gene fusions and splice variants in cancer, focusing on RNA analysis and how analytic methods have evolved in both tissue and liquid biopsies. DATA SOURCES: - This is a narrative review based on PubMed searches and the authors' own experiences. CONCLUSIONS: - Reliable RNA-based testing in tissue and liquid biopsies can inform the diagnostic process and guide physicians toward the best treatment options. Next-generation sequencing methodologies permit simultaneous assessment of molecular alterations and increase the number of treatment options available for cancer patients.
CONTEXT: - Technologic advances have contributed to the increasing relevance of RNA analysis in clinical oncology practice. The different genetic aberrations that can be screened with RNA include gene fusions and splice variants. Validated methods of identifying these alterations include fluorescence in situ hybridization, immunohistochemistry, reverse transcription-polymerase chain reaction, and next-generation sequencing, which can provide physicians valuable information on disease and treatment of cancerpatients. OBJECTIVE: - To discuss the standard techniques available and new approaches for the identification of gene fusions and splice variants in cancer, focusing on RNA analysis and how analytic methods have evolved in both tissue and liquid biopsies. DATA SOURCES: - This is a narrative review based on PubMed searches and the authors' own experiences. CONCLUSIONS: - Reliable RNA-based testing in tissue and liquid biopsies can inform the diagnostic process and guide physicians toward the best treatment options. Next-generation sequencing methodologies permit simultaneous assessment of molecular alterations and increase the number of treatment options available for cancerpatients.