Fast and Accurate: Rapid Somatic Mutation Screening in Cancer — A Reliable Tool for Routine Diagnostics

Somatic mutations are key drivers in tumorigenesis and serve as critical diagnostic, prognostic, and predictive biomarkers. hTERT promoter mutations, common in head and neck squamous cell carcinoma (HNSCC), promote telomerase reactivation and cellular immortalization. In colorectal cancer, activating KRAS mutations — particularly in codons 12 and 13 — constitutively activate the RAS/MAPK pathway and confer resistance to anti-EGFR therapies.

We evaluated the performance of rapid molecular assays for detecting hTERT and KRAS mutations in tumor tissue samples, comparing the results with data obtained by Next Generation Sequencing (NGS). All assays showed complete concordance with NGS results.

Thanks to their ease of use, rapid execution, and minimal hands-on time, these assays represent a valuable tool for routine diagnostics and may be suitable for primary mutation screening.

Learning Objectives

• Understand the clinical relevance of hTERT and KRAS mutations in HNSCC and colorectal cancer.

• Compare the performance and concordance of rapid molecular assays with Next Generation Sequencing (NGS) for detecting somatic mutations in tumor tissue samples.

• Evaluate the benefits of rapid assays for use in routine diagnostics and mutation screening.

Newsletters

Receive the latest pathologist news, personalities, education, and career development – weekly to your inbox.

I have read and understand the Privacy Notice*

Subscribe