Detection of EGFR mutation in circulating tumor DNA
Research type
Research Study
Full title
Detection of genomic mutations in blood and urine free circulating tumour DNA (ctDNA) in inoperable and metastatic lung adenocarcinoma harboring an EGFR mutation on tissue
IRAS ID
226243
Contact name
Sebastian Oltean
Contact email
Duration of Study in the UK
2 years, 7 months, 30 days
Research summary
Epidermal growth factor receptor (EGFR) tyrosine-kinase inhibitors (TKIs) have been proven to be an effective first-line treatment for non-small cell lung cancer (NSCLC) harbouring the activating EGFR mutation. Afatinib is an irreversible inhibitor of EGFR and has been licensed for TKI-naïve EGFR-mutation positive NSCLC on the basis of two phase III studies which showed afatinib to be superior to standard chemotherapy in terms of both progression-free survival and overall survival. However, tumour progression still occurs and knowledge of development of these resistance mechanisms is still needed. Continuous assessment of EGFR mutation in NSCLC patients would allow for optimization of pharmacologic treatment. At present, the EGFR mutation is detected via PCR analysis of biopsied tumour tissue, however repeat biopsy during treatment and on progression is not only invasive for the patient, but also does not represent neoplastic tissues from multiple metastatic sites because of tumour heterogeneity. Circulating tumour DNA (ctDNA) may be an alternative option as a “liquid biopsy” to provide real time information on a patient’s disease status.Published data is available on the detection of EGFR mutation in ctDNA from serum blood samples and now emerging evidence has shown that urine samples can also be used to track response and progression to EGFR TKI therapy.
Being able to detect such mutations in blood and urine would allow us to spare biopsy and better monitor of the mechanism of resistance that occurs in any case after a certain while.REC name
North West - Greater Manchester South Research Ethics Committee
REC reference
17/NW/0513
Date of REC Opinion
15 Aug 2017
REC opinion
Favourable Opinion