About the disease

Briefly about the disease and its targeted therapies

In Europe, lung cancer is the second most common cancer in men and the third in women. Based on the features of the cancer cells, most of the cases are grouped into two main types: small cell (SCLC) and non-small cell lung cancer (NSCLC). These types have different behaviours and require different treatment. NSCLCs represent 85–90% of all lung cancers with close relation to smoking and air pollution, but heredity may contribute to its development as well. It has been estimated that 8% of lung cancers are linked to a genetic predisposition. The risk may increase if a parent or sibling has the disease; even so, it doesn't mean you will definitely get the disease if someone in your family has it.

Personalized medicine involves looking at the cells obtained from the tumour sample to see if there are any genetic mutations—changes in your genes—that could be linked to the tumorigenesis. This technology has brought new hope to people with lung cancer, especially for those suffering from NSCLC, in the past few years. The National Comprehensive Cancer Network’s (NCCN) clinical practice guideline recommends all patients with lung adenocarcinoma be tested for EGFR mutations, after having demonstrated clinically meaningful improvement of a survival end point in patients with the molecular alteration treated with a matching drug. They also recommend that patients receive routine biomarker testing for ALK, RET and ROS1 fusions, as well as BRAF mutations, c-MET exon 14 mutations. Further genetic alterations such as NTRK fusion and ERBB2 mutations are mentioned to be meaningful. The KRAS mutation is the most common alteration in adenocarcinomas that show lack of therapeutic efficacy of anti-EGFR therapy, but it is a meaningful biomarker in cancer patient management.

NCCN recommends EGFR liquid biopsy (peripheral blood taken for genetic marker testing) as a resistance mutation test technique for tumour progression and a screening option when the clinician needs quick results and cannot rely on standard tissue biopsies due to tumour location, size, or deterioration of previously collected samples.