Rathke's cleft cyst: From history to molecular genetics

Area of Science:

• Neuroendocrinology
• Pituitary Pathology
• Developmental Biology

Background:

• Rathke's cleft cysts (RCCs) are common, benign pituitary lesions originating from Rathke's pouch remnants.
• They can present asymptomatically or with progressive symptoms, often found incidentally on brain imaging.
• Accurate differential diagnosis, particularly excluding craniopharyngioma, is critical.

Purpose of the Study:

• To review the pathogenesis, diagnosis, and management of Rathke's cleft cysts.
• To highlight novel molecular markers and diagnostic tools for RCCs.
• To discuss current therapeutic strategies based on clinical presentation.

Main Methods:

• Review of recent literature on Rathke's cleft cyst pathogenesis and diagnosis.
• Analysis of molecular mechanisms including PROP-1 and leukemia inhibitory factor.
• Evaluation of immunohistochemical markers (cytokeratins 8 and 2) and beta-catenin mutations for differential diagnosis.

Main Results:

• High PROP-1 expression and leukemia inhibitory factor are implicated in RCC pathogenesis.
• Cytokeratins 8 and 2 expression aids in differentiating RCCs from craniopharyngiomas.
• Beta-catenin mutations are found in craniopharyngiomas but typically not in RCCs.

Conclusions:

• Understanding molecular pathogenesis aids in RCC diagnosis and management.
• Observation is suitable for small, asymptomatic RCCs; surgery for symptomatic cases.
• Stereotactic radiosurgery is effective for recurrent RCCs with low risk.