Retrospective Analysis to Optimize the Detection of Exon 14 Skipping Mutations in Non-Small Cell Lung Cancer

Overview

Journal Diagnostics (Basel)

Specialty Radiology

Date 2024 Jun 19

PMID 38893636

Authors

Jang-Jih Lu

Shu-Hui Tsai

Lee-Chung Lin

Tzong-Shi Chiueh

Affiliations

Soon will be listed here.

Abstract

Our study optimized ex14 skipping mutation detection by analyzing 223 Oncomine Focus Assay-positive cases using Pan Lung Cancer PCR Panel and reverse transcription (RT)-PCR. Among the 11 ex14 skipping mutation-positive cases (average read counts: 1390), 2 with Oncomine Focus Assay read counts of 2540 and 10,177 were positive on all platforms. Those with Oncomine Focus Assay read counts ranging from 179 to 612 tested negative elsewhere. Specimens with low ratios (average ratio: 0.12% for nine cases) may yield false-positive results. Our results suggested that monitoring read counts and ratios and validating the results with RT-PCR are crucial to prevent false positives.

Citing Articles

MET Exon 14 Skipping and Novel Actionable Variants: Diagnostic and Therapeutic Implications in Latin American Non-Small-Cell Lung Cancer Patients.

Rivas S, Sepulveda R, Tapia I, Estay C, Soto V, Blanco A Int J Mol Sci. 2025; 25(24.

PMID: 39769478 PMC: 11677537. DOI: 10.3390/ijms252413715.

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