Current and future molecular diagnostics in non-small-cell lung cancer

Abstract

The molecular investigation of lung cancer has opened up an advanced area for the diagnosis and therapeutic management of lung cancer patients. Gene alterations in cancer initiation and progression provide not only information on molecular changes in lung cancer but also opportunities in advanced therapeutic regime by personalized targeted therapy. EGFR mutations and ALK rearrangement are important predictive biomarkers for the efficiency of tyrosine kinase inhibitor treatment in lung cancer patients. Moreover, epigenetic aberration and microRNA dysregulation are recent advances in the early detection and monitoring of lung cancer. Although a wide range of molecular tests are available, standardization and validation of assay protocols are essential for the quality of the test outcome. In this review, current and new advancements of molecular biomarkers for non-small-cell lung cancer will be discussed. Recommendations on future development of molecular diagnostic services will also be explored.

Keywords:

• ALK rearrangement
• EGFR mutation
• molecular diagnostics
• non-small-cell lung cancer

Acknowledgements

The authors thank Dr John KC Chan and Dr Cheuk Wah for providing information on molecular diagnostic services development.

Financial & competing interests disclosure

The authors have no relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript. This includes employment, consultancies, honoraria, stock ownership or options, expert testimony, grants or patents received or pending, or royalties.

Key issues

• Lung cancer is the most common cancer in males with a weighing of 16.7% of total cancer cases recorded in 2012 worldwide. In females, it is the third most common cancer. Non-small-cell lung cancer constitutes a major proportion of lung cancer.

• The advancement of molecular investigation of lung cancer has opened up a new area for the diagnosis and therapeutic management of lung cancer patients. However, some challenges are still unresolved.

• Standardization and validation of assay protocols of molecular tests are essential for quality test outcome.

• Epigenetic biomarkers have been shown to be potentially useful in early detection and monitoring of lung cancer.

• Targeted therapy does not benefit lung cancer patients whose gene alterations do not have available targeted agents. Drug resistance may develop for tyrosine kinase inhibitors in a relatively short time after initial therapy. Further advancements in new drugs and therapeutic targets are in urgent demand.