Inside Diagnostics Lessons from France: Next Generation Sequencing data reveals prevalence of driver mutations in lung cancer
Further evidence about the utility of doing comprehensive molecular testing at the time that lung cancers are first suspected was recently published in the Lancet in January that recorded just 1 years’ experience of the French Cooperative Intergroup in which every patient with a lung cancer had comprehensive molecular testing at the time of diagnosis. Because about 39 000 new cases of lung cancer (of any stage and histology) are reported every year in France, 18 000 patients with advanced non-squamous NSCLC have to be screened for EGFR mutations and ALK rearrangements according to current guidelines. The study reports results in more than 17,000 people, all collected in just one year.
The study found a driver mutation in many patients and patients with targeted therapy had a higher rate of tumor shrinkage, better progression-free survival, and better overall survival. This trial is unique due to the size of the tested population and the fact that it provides insight in the true prevalence of driver mutations in a European population. It also demonstrates once again that this information is helpful and can be generated for every patient on a routine basis. Comprehensive molecular testing was part of a standard lung cancer gene panel identified with a next-generation sequencing approach, current and future molecular targets with clinical relevance were included. Interestingly 12% of the patients with adenocarcinoma histology had an EGFR activating mutation and in patients with squamous histology included for testing the prevalence of EGFR activating mutations was not zero but 1%. For the first time insights were shown on prevalence of the T790M mutation in first line patients.
The valuable molecular information contained in the tissue biopsy that directs successful therapy highlights the need for close collaboration between pulmonologists, interventional radiologists, thoracic surgeons with pathologists and molecular biologists to get sufficient tissue for complete molecular testing at the time of diagnosis or whenever lung cancer is suspected.
Diagnostics Manager AstraZeneca
NS ID BE-1286-RD07/2017-WEB
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About the Author
Rudy Hovelinck obtained a scientific degree first in biochemistry at Ghent University and later in Molecular Biology at the ULB. Initially exploring the academic world in diverse fields as genetics, protein chemistry and virology, he soon realised that bridging scientific knowledge to the medical world was a more meaningful way of spending his professional life. This journey started in the field of pathology biomarker testing, introducing HER2 IHC and ISH testing for patient therapy selection and continued in the field of molecular oncology. Today at AstraZeneca he works as a diagnostics manager. In this role he is passionately contributing to the successful introduction of novel biomarkers and support current testing strategies for patient selection. In his own time he enjoys travelling with his family exploring the world and spending time close to nature. Specialties: Oncology, Anatomic Pathology, Biomarker Development, Medical Devices.