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Gregory J. Riely, MD, PhD


Can Novel Methylation Biomarkers Enhance Lung Cancer Diagnosis via Bronchial Washing Samples?

By: Amanda E. Ruffino, BA
Posted: Monday, May 6, 2024

Ji Woong Son, MD, PhD, of Konyang University College of Medicine, Daejeon, Republic of Korea, and colleagues aimed to enhance lung cancer diagnosis by identifying methylation biomarkers. Methylation microarray analyses of primary tumors and adjacent nontumor tissues from 13 patients with lung cancer revealed six methylated genes associated with the disease. A subsequent validation process identified PCDHGA12 and PRRX1 methylation as promising markers. The investigators presented their findings at the American Association for Cancer Research (AACR) Annual Meeting 2024 (Abstract 1029/9).

Sensitivity, specificity, positive predictive value, negative predictive value, and correlation with demographic and tumor characteristics were assessed. Methylation microarray analyses were conducted on primary lung cancer tumors and adjacent nontumor tissues from 13 patients across various stages (I–IV). Six methylated genes (ADAMTS20, FOXC2, NKX2-5, OLIG3, PCDHGA12, and PRRX1) associated with lung cancer were identified and validated using bisulfite-pyrosequencing. An assay was developed for sensitive detection of methylation in bronchial washing samples. Clinical validation involved 68 patients with lung cancer and 33 other patients without the disease, employing the PCDHGA12 and PRRX1 combination. The PCDHGA12 and PRRX1 combination demonstrated a sensitivity of 82.4% and a specificity of 87.9%, with an AUC of 0.891.

These findings suggest that PCDHGA12 and PRRX1 methylation could serve as valuable adjuncts to cytology in diagnosing lung cancer, potentially improving detection rates and patient outcomes. Biomarker status was not correlated with demographic factors, according to the investigators, but it was associated with tumor characteristics, suggesting their potential as adjuncts to cytology in lung cancer diagnosis.

Disclosure: The study authors reported no conflicts of interest.

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