Enhanced SOX2 expression in retinoblastoma tissues and peripheral blood is associated with the clinicopathological characteristics of the disease.

The present study aimed to investigate the association between the expression of sex-determining region Y box 2 (SOX2) in retinoblastoma (Rb) tissues and peripheral blood, and the clinicopathological characteristics of Rb. The expression of SOX2 in Rb tissues was detected by immunohistochemical staining and western blot analysis. SOX2 expression in the peripheral blood of children with Rb was determined using quantitative real-time polymerase chain reaction. The correlation between SOX2 expression and the clinicopathological characteristics of Rb was analyzed using χ tests. The positive rate of SOX2 in Rb tissues was 82.2%, while the expression of SOX2 in the control group tissues was negative. Western blot analysis detected a higher expression of SOX2 in the Rb tissues than in the control group tissues. Poorly differentiated Rb tissues exhibited significantly higher levels of SOX2 expression compared with the well-differentiated Rb tissues. SOX2 expression was higher in the peripheral blood of children with Rb than in individuals from the control group. The level of SOX2 expression in the peripheral blood of the poorly differentiated group was higher than that of the well-differentiated group. Enhanced SOX2 expression in Rb tissues and peripheral blood was closely associated with the clinicopathological characteristics of Rb. Therefore, SOX2 may be a novel target biomarker for the clinical diagnosis and treatment of Rb.