Lung Cancer Genetic Testing

Genetic mutations play a key role in NSCLC. Identifying certain, key mutations can help select targeted therapy. The two most important mutations in lung cancer right now are the EGFR and EML-4ALK mutation and are found in the subtype of lung cancer called adenocarcinoma. These mutations are more commonly found in female, asian, non-smokers. However, they are also found in smokers and males, but to a lesser degree.

Patients with the EGFR mutation are generally treated with a drug (pill) called Tarceva as first line treatment, rather than chemotherapy. Similarly, patients with the EML-4 ALK mutation are treated with a recently approved drug (pill) called Xalqori (Crizotinib). Generally patients with these mutations who are treated with the appropriate drug do very well when compared to patients who don't have the mutation and are treated with chemotherapy

Due to the dramatic responses with the use of these drugs when a mutation is identified, it is important to test for these mutation at diagnosis. Generally, when the initally biopsy is done, I make sure that there is enough material left over to send for molecular testing. It takes roughly 2 weeks to get the results back, so based on patient preference, I may start the patient on chemotherapy until the results come back.

To note, the testing of these mutations should routinely be performed in patients with stage IV NSCLC, not in patients with stage I-III (yet). Outside of a clinical trial, there is just not enough evidence yet on how to use these molecular markers in stage I to III NSCLC although this may change very soon. Genetic mutations play a key role in NSCLC. Identifying certain, key mutations can help select targeted therapy. The two most important mutations in lung cancer right now are the EGFR and EML-4ALK mutation and are found in the subtype of lung cancer called adenocarcinoma. These mutations are more commonly found in female, asian, non-smokers. However, they are also found in smokers and males, but to a lesser degree.

Patients with the EGFR mutation are generally treated with a drug (pill) called Tarceva as first line treatment, rather than chemotherapy. Similarly, patients with the EML-4 ALK mutation are treated with a recently approved drug (pill) called Xalqori (Crizotinib). Generally patients with these mutations who are treated with the appropriate drug do very well when compared to patients who don't have the mutation and are treated with chemotherapy

Due to the dramatic responses with the use of these drugs when a mutation is identified, it is important to test for these mutation at diagnosis. Generally, when the initally biopsy is done, I make sure that there is enough material left over to send for molecular testing. It takes roughly 2 weeks to get the results back, so based on patient preference, I may start the patient on chemotherapy until the results come back.

To note, the testing of these mutations should routinely be performed in patients with stage IV NSCLC, not in patients with stage I-III (yet). Outside of a clinical trial, there is just not enough evidence yet on how to use these molecular markers in stage I to III NSCLC although this may change very soon.