Vocal folds irregular mucosal changes: a multimodal evaluation for diagnosis and genetic risk stratification

Irregular vocal fold mucosal changes pose diagnostic challenges and may range from benign to malignant. Emerging research highlights Sex-determining Region Y-box 2 (SOX2) gene amplification as a potential early marker in head and neck tumorigenesis. This work aimed to evaluate vocal fold irregular mucosal lesions for the early detection of high-risk lesions (high-grade dysplasia, carcinoma in situ, and squamous cell carcinoma (SCC)) and to explored the potential role of SOX2 gene in early laryngeal carcinogenesis.

This is a prospective observational cross-sectional study with a follow-up up to 2 years; 40 male patients with vocal fold irregularities were examined by laryngo-stroboscopy, then classified into two groups based on histopathological diagnosis: (A) Low-risk group (benign lesions, low-grade dysplasia), (B) High-risk group (high-grade dysplasia, carcinoma insitu and SCC. Real-time polymerase chain reaction PCR was performed to detect SOX2 gene expression.

Significant differences were observed in vocal fold stroboscopic features (mucosal wave and amplitude), and SOX2 gene expression across lesion groups, with higher SOX2 expression noted in the high-risk group (P < 0.05). A strong positive correlation was observed between histopathological severity and each of stroboscopic impairment in mucosal wave and amplitude, and Log SOX2 gene expression. The regression analysis showed a significant independent predictive effect of SOX2 gene expression on the progression to high-risk lesions.

This study integrated established diagnostic standards, laryngostroboscopy for clinical assessment, and histopathology as the gold standard for grading, while the analysis of SOX2 gene expression showed a promising predictive molecular marker for tumorigenesis.