Determination of somatic oncogenic mutations linked to target-based therapies using MassARRAY technology

Area of Science:

• Oncology
• Genetics
• Molecular Biology

Background:

• Somatic mutation analysis is crucial for personalized cancer therapy.
• Identifying actionable oncogene mutations aids in selecting targeted treatments for advanced solid tumors.

Purpose of the Study:

• To assess the prevalence of common genetic events in actionable oncogenes.
• To evaluate MassARRAY technology for mutation profiling in patients eligible for targeted therapies.

Main Methods:

• Analysis of 238 mutations across 19 oncogenes in 197 formalin-fixed paraffin-embedded tumor samples.
• Utilized OncoCarta Panel v1.0 (Sequenom) for MassARRAY analysis.
• Validated mutation profiles with a customized panel and Next-Generation Sequencing (GS-Junior 454, Roche).

Main Results:

• 49.2% (97/197) of patients had at least one mutation.
• KRAS (41.2%) and PIK3CA (30.9%) were the most frequent mutations.
• 32.0% of patients with mutations had alterations in two genes, predominantly in colorectal cancer cases (64.5%).

Conclusions:

• MassARRAY technology is a rapid and effective method for detecting key cancer-driving mutations.
• Molecular characterization enables appropriate patient selection for personalized therapies.
• 28.0% of patients received targeted treatments or entered clinical trials based on molecular findings.