Molecular diagnosis of lung cancer

In today’s world, lung cancer has become more common and is considered to be the leading cause of mortality across the globe. This cancer is classified into non-small cell lung cancer (NSCLC), and small cell lung cancer (SCLC) based on its origin. There are also different types of lung cancer and the most common ones include: adenocarcinoma, squamous cell carcinoma, and neuroendocrine cancers (small cell carcinoma, and large cell neuroendocrine carcinoma). There are some modifiable and non-modifiable risk factors increasing the feasibility of lung cancer. Adding to these factors, genetics plays an important role in lung cancer (LC). Genetic alterations in lung cancer vary in their timing and mechanisms. The main targetable driver genes involved in NSCLC, are EGFR (epidermal growth factor receptor), KRAS (Kirsten rat sarcoma viral oncogene homolog), ALK (anaplastic lymphoma kinase), BRAF (V-raf murine sarcoma oncogene homolog B۱), and ROS۱ (c-ros oncogene ۱) genes. Methods: Genetic assessment is essential for early detection and intervention which can improve the prognosis of this cancer. As a result, we summarized the latest techniques in molecular diagnostics for lung cancer in this study. Results: Several methods such as direct sequencing, NGS, pyrosequencing, dHPLC, HRMA, and PCR-based methods have been used to detect deletion and point mutations in the EGFR genes. Additionally, the IdyllaTM EGFR Mutation Test is designed to detect EGFR mutations using formalin-fixed paraffin -embedded samples. By using NGS, scientists will be able to analyze various molecular samples simultaneously. Also, the challenges of using liquid and tissue biopsies can be addressed by NGS. Conclusion: Besides, all the issues mentioned above, it is important to ensure that patients receive the most effective treatments. To do so, biomarker testing can be performed, and those actionable gene targets mentioned above can be identified. In summary, these findings underscore the significance of developing novel methods that exhibit high levels of accuracy and sensitivity in the detection of cancer.

کلیدواژه ها:

lung cancer ، molecular diagnostics techniques ، NGS