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Papillary Glioneuronal Tumor (PGNT) is a grade I tumor which was classified as a separate entity in the World Health Organization Classification of the Central Nervous System 2007 in the group of mixed glioneuronal tumors. This tumor is rare and subclassifying PGNT represents a challenge. Recently, a fusion between  SLC44A1  and  PRKCA  which encodes a protein kinase C involved in MAPK signaling pathway has been described in two studies (five cases). The current study aimed at raising the cytogenetic, histological and molecular profiles of PGNT and to determine if  SLC44A1-PRKCA  fusion represented a specific diagnostic marker to distinguish it from other glioneuronal tumors.    Results  We report on four pediatric cases of PGNT, along with clinico-radiologic and immunohistological features for which  SLC44A1-PRKCA  fusion assessment by fluorescence in situ hybridization,  BRAF V600E  and  FGFR1  mutation by immunohistochemistry and direct DNA sequencing and  KIAA1549-BRAF  fusion by RT-PCR were performed. MAPK signaling pathway activation was investigated using phospho-ERK immunohistochemistry and western blot. We analyzed fifteen cases of tumors with challenging histological or clinical differential diagnoses showing respectively a papillary architecture or periventricular location (PGNT mimics). fluorescence in situ hybridization analysis revealed a constant  SLC44A1-PRKCA  fusion signal in all PGNTs. None of PGNT mimics showed the  SLC44A1-PRKCA  fusion signal pattern. All PGNTs were negative for  BRAF  V600E and  FGFR1  mutation, and  KIAA1549-BRAF  fusion. Phospho-ERK analysis provides arguments for the activation of the MAPK signaling pathway in these tumors.    Conclusions  Here we confirmed and extended the molecular data on PGNT. These results suggest that PGNT belong to low grade glioma with MAPK signaling pathway deregulation.  SLC44A1 - PRKCA  fusion seems to be a specific characteristic of PGNT with a high diagnostic value and detectable by FISH.

Papillary glioneuronal tumors: histological and molecular characteristics and diagnostic value of SLC44A1-PRKCA fusion