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Front. Genet. | doi: 10.3389/fgene.2018.00049

Rathke´s Cleft cyst as origin of a pediatric papillary craniopharyngioma

Sven M. Schlaffer1, Robert Stoehr2,  Michael Buchfelder1, Rolf Buslei3 and  Annett Hölsken4*
  • 1Neurosugery, University Hospital Erlangen, Friedrich-Alexander university Erlangen-Nürnberg, Germany
  • 2Pathology, Univertity Hospital Erlangen, Friedrich-Alexander University Erlangen-Nürnberg, Germany
  • 3Pathology, Sozialstiftung Bamberg, Germany
  • 4Neuropathology, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nürnberg, Germany

A 6-year old male 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 BRAFV600E 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.

Keywords: Rathke´s cleft cyst, BRAF, Metaplasia, papillary craniopharyngioma, childhood

Received: 10 Mar 2017; Accepted: 31 Jan 2018.

Edited by:

Sarah H. Elsea, Baylor College of Medicine, United States

Reviewed by:

Silvia Pellegrini, University of Pisa, Italy
Anca Maria Cimpean, "Victor Babes" University of Medicine and Pharmacy Timisoara, Romania, Romania  

Copyright: © 2018 Schlaffer, Stoehr, Buchfelder, Buslei and Hölsken. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

* Correspondence: Dr. Annett Hölsken, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nürnberg, Neuropathology, Schwabachanlage 6, Erlangen, 91054, Bavaria, Germany,