Molecular markers of Rathke's cleft cysts and their clinical correlates: insights from experimental and human analyses.
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OBJECTIVE: Rathke's cleft cysts (RCCs) are benign cystic lesions of the sellar and suprasellar regions that may cause hypopituitarism and arginine vasopressin (AVP) deficiency when symptomatic. A recent study with Isl-1 knockout mice identified six molecular markers-KRT8, TUBA1A, SOX2, SOX9, FOXA1, and FOXJ1-as potential indicators of RCC pathogenesis. This study aimed to investigate the expression patterns of these markers in human RCCs and examine their association with clinical manifestations. METHODS: A retrospective analysis was conducted on 108 histopathologically confirmed RCC cases resected between 2011 and 2023 at three medical centers. Immunofluorescence staining was performed for six markers, and expression profiles were correlated with clinical symptoms (hypopituitarism, AVP deficiency, visual disturbances, and headache), epithelial morphology, and MRI findings. Statistical analysis was conducted using chi-square or Fisher's exact tests. RESULTS: KRT8 was expressed in 100% of RCC samples, while the expression rates for TUBA1A, SOX2, SOX9, FOXA1, and FOXJ1 were 90.7%, 75.9%, 76.9%, 55.6%, and 84.3%, respectively. SOX9 expression was significantly associated with single-layered epithelial morphology (p = 0.001). The absence of TUBA1A expression was significantly associated with AVP deficiency (p = 0.042), and FOXJ1 positivity was significantly associated with hypopituitarism (p = 0.040). No other significant associations were found between marker expression and imaging findings or other clinical symptoms. CONCLUSIONS: This study confirms that the six molecular markers identified in Isl-1 knockout mice are also expressed in human RCCs, with variable expression patterns. KRT8 and FOXA1 staining may aid in distinguishing RCCs from craniopharyngiomas. Moreover, FOXJ1 and TUBA1A expression profiles provide novel insights into the mechanisms underlying hypopituitarism and AVP deficiency, respectively. These findings highlight the potential diagnostic and prognostic utility of molecular markers in RCC management and underscore the need for further studies in asymptomatic and incidental cases.