Fusion gene and splice variant analyses in liquid biopsies of lung cancer patients.
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, aMETsplicing variant of exon 14, has been reported in 2-4% of lung adenocarcinoma and recent studies suggests that targeted therapies inhibitingMETsignaling would be beneficial for patients with this alteration. In this review, we will summarize the new techniques recently developed to detectALK,RET,ROSandNTRK1fusions andMETexon 14 splicing variant in liquid biopsy using plasma, serum, circulating tumor cells (CTCs), platelets and exosomes as starting material.
Pangaea Biotech, Laboratory of Oncology, Quirón Dexeus University Hospital, Barcelona, Spain.
Cristina
C
Aguado
Pangaea Biotech, Laboratory of Oncology, Quirón Dexeus University Hospital, Barcelona, Spain.
Ana
A
Giménez-Capitán
Pangaea 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.
Niki
N
Karachaliou
Pangaea Biotech, Laboratory of Oncology, Quirón Dexeus University Hospital, Barcelona, Spain.
Ana
A
Pérez-Rosado
Dr Rosell Oncology Institute, Quirón Dexeus University Hospital, Barcelona, Spain.
Santiago
S
Viteri
Dr Rosell Oncology Institute, Quirón Dexeus University Hospital, Barcelona, Spain.
Daniela
D
Morales-Espinosa
Pangaea 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.
Rafael
R
Rosell
Lung cancer; fusion gene; liquid biopsy; splice variant