Journal Article

Assessment of MYC and TERT copy number variations in lung cancer using digital PCR

Brüning, Thomas, Meier, Swetlana, Brik, Alexander, Szafranski, Katja, Ko, Yon-Dschun, Behrens, Thomas, Johnen, Georg, Wichert, Katharina, Weber, Daniel G., Rozynek, Peter, Gerwert, Klaus, Büttner, Reinhard

2023

Overview

Objective Lung cancer is the second most frequent cancer type and the most common cause of cancer-related deaths worldwide. Alteration of gene copy numbers are associated with lung cancer and the determination of copy number variations (CNV) is appropriate for the discrimination between tumor and non-tumor tissue in lung cancer. As telomerase reverse transcriptase ( TERT ) and v-myc avian myelocytomatosis viral oncogene homolog ( MYC ) play a role in lung cancer the aims of this study were the verification of our recent results analyzing MYC CNV in tumor and non-tumor tissue of lung cancer patients using an independent study group and the assessment of TERT CNV as an additional marker. Results TERT and MYC status was analyzed using digital PCR (dPCR) in tumor and adjacent non-tumor tissue samples of 114 lung cancer patients. The difference between tumor and non-tumor samples were statistically significant (p < 0.0001) for TERT and MYC . Using a predefined specificity of 99% a sensitivity of 41% and 51% was observed for TERT and MYC , respectively. For the combination of TERT and MYC the overall sensitivity increased to 60% at 99% specificity. We demonstrated that a combination of markers increases the performance in comparison to individual markers. Additionally, the determination of CNV using dPCR might be an appropriate tool in precision medicine.

• Publisher: BioMed Central,BioMed Central Ltd,Springer Nature B.V,BMC
• Subject: Advancing Methods in Molecular Biology and Genetics / Analysis / Biomedical and Life Sciences / Biomedicine / Cancer / Cell cycle / Copy number / Copy number variations / Diagnosis / Digital polymerase chain reaction / Evaluation / Frozen tissue / Genetic aspects / Health aspects / Identification and classification / Independent study / Life Sciences / Lung cancer / Lung cancer, Non-small cell / Marker combination / Medicine/Public Health / Myc protein / Non-small cell lung cancer / Oncogenes / Oncology, Experimental / Polymerase chain reaction / Precision medicine / Research Note / Risk factors / RNA-directed DNA polymerase / Statistical analysis / Telomerase / Telomerase reverse transcriptase / Tumors