Aims: Cancer as a disease has been detected to evolve through a series of genomic mutations which continue to keep accumulating depending on the aggressiveness and stage. This study aims at highlighting the significance of next generation sequencing (NGS) based genomic testing in detecting clinically actionable genomic markers in difficult to treat cancer presentations.

Methods: A retrospective analysis of comprehensive NGS outcomes with attention to complete patient demographics including current and previous disease co-morbidities was performed in selected clinically significant cancer cases.

Results: The study proved effective in all the 3 clinical presentations with effective treatment predictions. In Case A, presented with HER2 (ERBB2) positive breast cancer was identified with PI3K mutation proving efficient with mTOR inhibitors. Case B presented with lung adenocarcinoma also indicated the presence of JAK2 mutations. Case C who presented with pancreatic cancer was also identified with KRAS and CDKN2A mutations predicting the utility of MEK and PI3K inhibitors.

Conclusion: This reiterates the need to study every cancer type as an individual case and also the significance associated with the necessity for a comprehensive analysis to detect the complex web of active biological pathway in that specific cancer case. In this research report, we present three case studies of cancer types; breast, pancreas and lung, wherein a comprehensive genomic analysis strategy was employed and its ensuing effect on designing treatment and management modalities. Our attempt is focused on highlighting the need for beyond-the-guidelines diagnosis in every cancer case for better outcomes.

Keywords: Breast cancer, Genomic testing, Lung, Next generation sequencing, Pancreas