Aim: Rathke's cleft cysts and craniopharyngiomas tipically involve sellar region and their histogenetic relationship
is still matter of debate. Clinical and histopathologic differentiation of cystic lesions from the sellar region, that is,
craniopharyngiomas (CPs) and Rathke cleft cysts (RCCs), is challenging and has great importance with respect to
variable clinical manifestation and adapted surgical treatment strategies in both entities. The recent acquisition that
adamantinomatous and papillary craniopharyngiomas bear distinct molecular alterations i.e., β-catenin (CTNNB1)
and BRAFv600 mutations respectively, has suggest to screen for such alteration a series of Rathke cyst to seek a
possible relation with one of the two craniopharyngioma type.
Methods: Seven Rathke's cleft cysts were analyzed for BRAF and CTNNB1 mutational status by sequencing and
immunohistochemistry. Radiological, clinical and histological features were performed.
Results: None of the 7 Rathke's cleft cysts harbor BRAFV600E mutation. No CTNNB1 mutation was found.
Radiological, clinical and histological re-evaluation of the cases confirmed the diagnosis of Rathke's cleft cysts.
Conclusion: BRAFV600E and CTNNB1 mutations appeared, as most reliable factor for the differentiation
between purely cystic CPs and RCCs, whereas tumor location, tumor size, and radiological parameter of the tumor
were less consistent parameters. This study again confirms that craniopharyngiomas (CPs) and Rathke cleft cysts
(RCCs), are associated with distinct pathogenic pathways