Transl Lung Cancer Res. 2016 Oct;5(5):525-531.

Fusion gene and splice variant analyses in liquid biopsies of lung cancer patients.

Aguado C1, Giménez-Capitán A1, Karachaliou N2, Pérez-Rosado A1, Viteri S3, Morales-Espinosa D3, Rosell R4.

Author information

• 1Pangaea Biotech, Laboratory of Oncology, Quirón Dexeus University Hospital, Barcelona, Spain.
• 2Pangaea Biotech, Laboratory of Oncology, Quirón Dexeus University Hospital, Barcelona, Spain;; Dr Rosell Oncology Institute, Quirón Dexeus University Hospital, Barcelona, Spain;; University Hospital Sagrat Cor Quirónsalud group, Barcelona, Spain.
• 3Dr Rosell Oncology Institute, Quirón Dexeus University Hospital, Barcelona, Spain.
• 4Pangaea Biotech, Laboratory of Oncology, Quirón Dexeus University Hospital, Barcelona, Spain;; Dr Rosell Oncology Institute, Quirón Dexeus University Hospital, Barcelona, Spain;; Cancer Biology & Precision Medicine Program, Catalan Institute of Oncology, Germans Trias i Pujol Health Sciences Institute and Hospital, Badalona, Spain;; Autonomous University of Barcelona (UAB), Campus Can Ruti, Badalona, Spain;; Molecular Oncology Research (MORe) Foundation, Barcelona, Spain.

Abstract

Obtaining a biopsy of solid tumors requires invasive procedures that strongly limit patient compliance. In contrast, a blood extraction is safe, can be performed at many time points during the course disease and encourages appropriate therapy modifications, potentially improving the patient's clinical outcome and quality of life. Fusion of the tyrosine kinase genes anaplastic lymphoma kinase (ALK), C-ROS oncogen 1 (ROS 1), rearranged during transfection (RET) and neurotrophic tyrosine kinase 1 (NTRK1) occur in 1-5% of lung adenocarcinomas and constitute therapeutic targets for tyrosine kinase inhibitors. In addition, a MET splicing variant of exon 14, has been reported in 2-4% of lungadenocarcinoma and recent studies suggests that targeted therapies inhibiting MET signaling would be beneficial for patients with this alteration. In this review, we will summarize the new techniques recently developed to detect ALK, RET, ROS and NTRK1 fusions and METexon 14 splicing variant in liquid biopsy using plasma, serum, circulating tumor cells (CTCs), platelets and exosomes as starting material.