Liquid Biopsies Flashcards
What does Next Generation Sequencing (NGS), Digital Droplet PCR (ddPCR), array CGH find?
Amplifications and deletions, Translocations, Point mutations, Chromosomes abnormalities, epigenetic status (methylation)
What is the role of liquid biopsy?
At any stage of disease (early stage difficult).
Allows us to determine molecular profile of tumour helping with treatment decision.
Allows us to monitor response to therapy during treatment.
What are liquid biopsies?
Promising biomarkers that need to be clinically validated, not implemented as diagnosis tool yet*, but that provides highly specific and complementary information.
Can blood samples detect mutations in EFGR?
What is the aim?
Blood samples used to detect mutations in the EGFR gene in patients with NSCLC (non-small cell lung cancer)
mutations in EGFR receptor detected in 10 20% of NSCLC (most common lung cancer).
Aim of the test is to identify patients with NSCLC + eligible for treatment with alectinib -> target therapy for NSCLC which present mutation in EFGR.
What is the role of liquid CDX?
Pan-tumour liquid biopsy test for patients with advanced solid cancer.
What is a companion diagnostic test useful for? Example?
Companion diagnostic test to identify patients who may benefit from treatment with specific FDA approved targeted therapies e.g. PARP inhibitor patients with mutations of BRCA 1 and BRCA 2 genes. EGFR patients as well which comes with NSCLC.
