Leveraging underrepresented population data improves interpretation of genetic variants associated with hearing loss

Abstract

Eyelid sebaceous carcinoma (SbC) is a rare malignancy characterized by potentially aggressive behavior and a high local recurrence rate. This study aims to investigate the expression of nuclear YAP and its clinicopathological correlation in eyelid SbC. In the patients with eyelid SbC who had available tumor specimens, nuclear YAP and androgen receptor (AR) expression were assessed using immunohistochemistry staining, quantified by histochemical scoring (H-score). The primary outcome was local recurrence-free survival (LRFS). Additionally, distant recurrence-free survival, recurrence-free survival, and overall survival were evaluated. Among 47 patients, local recurrence occurred in 10 cases (21.3%), and distant recurrence was observed in 4 cases (8.5%) over a median follow-up period of 39.5 months. All local recurrence events were observed in the low nuclear YAP group (H-score ≤ 90), with a 5-year LRFS of 66.2% among 36 patients. Additionally, lower AR expression (H-score ≤ 50) was linked to a decreased 5-year LRFS of 59.4%, compared to 82.6% in the high AR expression group (Hazard ratio, 3.43; 95% CI, 0.96-12.20; p = 0.043). Lower nuclear YAP and AR expression appear to be associated with high local recurrence rates. Nuclear YAP expression may serve as a promising biomarker for prognosticating local recurrence in eyelid SbC.