Investigators from the Dr. Rosell Oncology Institute and Pangaea Oncology, IOR's molecular oncology laboratory, have demonstrated for the first time the efficacy of liquid biopsy as a stand-alone method for detection of certain genetic mutations in lung cancer. This advance, published by the prestigious scientific journal Annals of Oncology with the title of "Large scale, prospective screening of EGFR mutations in the blood of advanced NSCLC patients to guide treatment decisions” is the first to analyze the results of treatment based exclusively on diagnostics in blood. Treatment of non-small-cell lung cancer (NSCLC) has changed dramatically since the discovery in 2004 that mutations in the EGFR gene mutations cause lung cancer in certain patients (particularly those with lung adenocarcinoma, women and non- or ex-smokers). Nowadays, screening studies which are able to detect EGFR mutations can determine which patients are more likely to benefit from treatment with drugs targeted against a specific mutation, an approach known as personalized medicine. Patients treated with these drugs respond significantly better and for longer, compared with those treated with chemotherapy.

Analysis in tumor tissue is still the recommended method for detection of these and other mutations. However, the amount of tissue obtained from biopsy is often insufficient, especially in advanced cases of NSCLC. Liquid biopsy, a field in which IOR and Pangaea are leaders, is an innovative and non-invasive test which overcomes these difficulties by enabling performance of vital diagnostic tests in minimal amounts of biologic fluids such as cerebrospinal fluid, or plasma, serum or platelets in blood. Furthermore, it has demonstrated usefulness for monitoring response or resistance to treatment in real time through serial biopsies throughout the course of the disease.

The team led by Dr. Rafael Rosell, Chief Medical-Scientific Director & President or IOR & Pangaea, had already demonstrated that their test has the sensitivity and specificity (75.9% y 99.99%, respectively) required for incorporation into daily clinical practice. With the present study they wanted to demonstrate its viability for large scale screening in patients without paired tissue samples available.

In order to perform the analyses, researchers obtained 1033 blood samples from patients in hospitals across Spain with NSCLC and without paired tissue samples available, and analyzed circulating free DNA (cfDNA) in 1026 of them. EGFR mutations were detected in 113 samples (11%).

According to Dr. Rosell, “There is a clear need to be able to determine an ever-growing number of genetic mutations in cfDNA in blood, and identify those patients who can benefit from personalized treatment. We also need to be able to continually monitor response to the treatment throughout the evolution of the disease. Therefore, it is vital to have reliable diagnosis tests which can be performed in alternative biological sources when it is not possible to obtain a tissue sample. This is the case in some 25% of patients with advanced NSCLC. Thanks to this publication in Annals of Oncology, the usefulness of liquid biopsy in this scenario will be more easily recognized and accepted.”