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Rathke's Cleft Cyst as Origin of a Pediatric Papillary Craniopharyngioma
Sven-Martin Schlaffer1, Michael Buchfelder1, Robert Stoehr2
1Department of Neurosurgery, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nürnberg, Erlangen, Germany.
Insights
This study details a rare pediatric sellar lesion, initially resembling a Rathke's cleft cyst but exhibiting features of papillary craniopharyngioma. Genetic and marker analysis revealed a novel BRAF mutation, suggesting a potential transition between these tumor types.
Area of Science:
- Pediatric neurosurgery
- Endocrinology
- Molecular pathology
Background:
- Sellar lesions in children, such as adamantinomatous craniopharyngioma (adaCP) and Rathke's cleft cysts (RCCs), can cause hypothalamic-pituitary axis dysfunction.
- Distinguishing between these entities is crucial as adaCP involves CTNNB1 mutations and nuclear beta-catenin expression, while RCCs typically lack these.
- Papillary craniopharyngiomas (papCP), characterized by BRAF mutations, share histological similarities with RCC metaplasia but are rare in children.
Abstract:
A 6-year old patient presented with an intra and suprasellar cystic lesion accompanied with impairment of the hypothalamic-pituitary axis and partial hypopituitarism. The most likely cause of sellar lesions in this age group are adamantinomatous craniopharyngioma (adaCP) or Rathke´s cleft cysts (RCCs). AdaCP are characterized by CTNNB1 mutations accompanied with aberrant nuclear beta-catenin expression. RCC show neither nuclear beta-catenin expression nor BRAF mutation. The latter is a hallmark of papillary craniopharyngiomas (papCP) that exhibit remarkable histological similarity with metaplasia of RCC. Diagnosis of the patient was elucidated by CTNNB1 and BRAF mutation screening, utilizing different approaches, as well as histological examination of markers, e.g., beta-catenin, claudin-1, EpCAM and the mutated BRAFV600E protein, which are known to be differentially expressed in sellar lesions. The case presented reveals extraordinary aspects for two reasons. Firstly, the lesion appeared clinically, on MRI, intraoperatively and histologically as RCC with prominent squamous metaplasia, but showing an expression pattern of markers also found in papCP, whilst exhibiting a hitherto undescribed BRAF mutation. This important result documents a supposable transition of RCC metaplasia into a papillary craniopharyngioma (papCP). Secondly, this intriguing case shows unexpectedly that although papCP usually occurs almost exclusively in adults, it can also arise in childhood.