Genomics driven-oncology: challenges and perspectives

Area of Science:

• Oncology
• Molecular Biology
• Genetics

Background:

• Cancer treatment is increasingly shifting towards precision medicine based on molecular tumor profiles.
• Driver mutations are identified in most cancers, enabling targeted therapies.
• Lung adenocarcinoma shows driver alterations in ~75% of cases, with RET fusions in 1-2% offering therapeutic targets.

Purpose of the Study:

• To explore the potential of genomics-driven oncology for personalized cancer treatment.
• To highlight the significance of RET fusion transcripts as therapeutic targets in lung adenocarcinoma.
• To identify key challenges in implementing routine molecular diagnostics for cancer patients.

Main Methods:

• Review of current approaches in molecular diagnostics for comprehensive tumor characterization.
• Analysis of biomarkers for predicting response and resistance to targeted therapies.
• Investigation into the impact of tumor heterogeneity on treatment efficacy.

Main Results:

• Identification of specific molecular subgroups with actionable mutations across various cancers.
• RET fusion transcripts in lung adenocarcinoma represent a targetable alteration with RET kinase inhibitors.
• Challenges include the need for advanced low-input DNA/RNA methods, reliable biomarkers, and understanding tumor heterogeneity.

Conclusions:

• Genomics-driven oncology holds promise for personalized cancer care.
• Further advancements in molecular diagnostics, biomarker discovery, and understanding tumor biology are essential for routine clinical application.