Molecular Diagnostics in Clinical Oncology.

Area of Science:

• Oncology
• Molecular Biology
• Genetics

Background:

• Molecular tests are integral to modern clinical oncology.
• Mutation analysis aids in diagnosing hereditary cancer syndromes and guiding treatment strategies.
• Germ-line mutations significantly impact cancer treatment and patient management.

Purpose of the Study:

• To highlight the diverse applications of molecular tests in clinical oncology.
• To emphasize the role of personalized medicine driven by molecular profiling.
• To explore the potential of liquid biopsy for non-invasive cancer monitoring and detection.

Main Methods:

• Routine mutation analysis for hereditary cancer syndromes.
• Personalized drug selection based on actionable mutations (e.g., EGFR, BRAF, ALK, ROS1, PARP inhibitors).
• Analysis of circulating tumor DNA (ctDNA) and other tumor-derived molecules in body fluids for liquid biopsy.

Main Results:

• Molecular tests enable precise diagnosis and tailored therapies for cancer patients.
• Liquid biopsy shows promise for non-invasive cancer monitoring, early detection, and identifying drug-sensitizing mutations.
• Tumor molecular portraits can reveal novel diagnostic markers, including for cancers of unknown primary origin (CUPs).

Conclusions:

• Molecular testing is fundamental for advancing cancer diagnosis, treatment personalization, and patient surveillance.
• Liquid biopsy represents a significant non-invasive tool for cancer management and early detection.
• Continued molecular characterization of tumors will yield new diagnostic and therapeutic markers.