Abstract
Background
Differentiating craniopharyngiomas (CPs) from Rathke's cleft cysts (RCCs) is challenging
due to overlapping features. RCCs with squamous metaplasia (SM) may represent a transition
to CPs, complicating diagnosis. This study presents a recurrent RCC later confirmed
as papillary CP, prompting a systematic review to identify early diagnostic markers.
The goal is to improve RCC and CP differentiation, preventing radical resection of
true RCCs, and predicting recurrence or transformation to CPs.
Methods
A systematic review was performed with adherence to Preferred Reporting Items for
Systematic Reviews and Meta-Analyses guidelines. Using the PubMed/Medline databases,
a search string was created with the keywords “RCC transformation or (RCC and CP)
or (RCC to CP) or (RCC to CP) or (Rathke's and CP).” The initial search yielded 489
papers, narrowed by key data points including RCC recurrence with histologic CP confirmation.
Results
The final review included five studies, which detailed cases of initial pathological
diagnosis of RCC that were later diagnosed as a CP upon repeat surgery and tissue
sampling. Histological examination of primary and secondary surgical resections revealed
RCC recurrence with transformation to CPs (two adamantinomatous CPs, two papillary
CPs, and one ciliated CP).
Conclusion
RCCs and CPs share overlapping features, complicating preoperative diagnosis and treatment.
RCC recurrence with subsequent CP is rare, as our review identified only five recorded
cases. Definitive diagnosis requires pathology, though sampling bias poses challenges.
Advanced imaging (contrast-enhanced 3D T2-FLAIR MRI) and biomarkers (BRAF V600E, beta-catenin,
p53, Ki-67) show promise in improving diagnosis, predicting recurrence, and guiding
treatment.
Keywords CP - RCC - BRAF V600 - histological transformation
