A comparison of MASS-PCR and ARMS-PCR for the detection of lung cancer gene mutation

BACKGROUND: Targeted therapy has been proven to be effective in lung cancer patients with specific driver gene mutations. At present, Sanger sequencing is still the gold standard in clinical practice to detect mutation, and amplification refractory mutation system PCR (ARMS-PCR) has become widely used due to its higher sensitivity and less limitation compared with Sanger sequencing. Mutation-selected amplification specific system PCR (MASS-PCR) is a novel gene detection technique with high specificity and sensitivity. This study aimed to compare the accuracy and sensitivity of ARMS-PCR and MASS-PCR and purposed to make an alternative choice in gene mutation detection in lung cancer. METHOD: A total of 293 formalin-fixed paraffin-embedded (FFPE) tissues were collected from 293 patients with lung cancer from 2017 to 2018. The sample mutation statuses were evaluated by ARMS-PCR and MASS-PCR. Sanger sequencing was also conducted to confirm the results further. The consistency of ARMS-PCR and MASS-PCR were analyzed, and receiver operating characteristic (ROC) curve was drawn to assess the sensitivity and specificity of MASS-PCR. RESULTS: The consistency rate between the MASS-PCR and Sanger sequencing (kappa value =0.929) was higher than that between the MASS-PCR and ARMS-PCR (kappa value =0.821). There were 20 samples had inconsistent results among the three assays. For these samples, 11 positive samples were verified by the MASS-PCR and Sanger sequencing. Besides, 3 negative samples in Sanger sequencing were detected to be positive in MASS-PCR and ARMS-PCR. The ROC area under the curve (AUC) of assay panels was 0.930 referring to ARMS-PCR, and 0.967 as Sanger sequencing was referred to. CONCLUSIONS: Our study demonstrated a higher accuracy and sensitivity of MASS-PCR than ARMS-PCR. Therefore, MASS-PCR could be used in clinical practice to detect gene mutations in lung cancer patients.