RGD Reference Report - Papillary glioneuronal tumors: histological and molecular characteristics and diagnostic value of SLC44A1-PRKCA fusion. - Rat Genome Database

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

Authors: Pages, M  Lacroix, L  Tauziede-Espariat, A  Castel, D  Daudigeos-Dubus, E  Ridola, V  Gilles, S  Fina, F  Andreiuolo, F  Polivka, M  Lechapt-Zalcman, E  Puget, S  Boddaert, N  Liu, XQ  Bridge, JA  Grill, J  Chretien, F  Varlet, P 
Citation: Pages M, etal., Acta Neuropathol Commun. 2015 Dec 15;3:85. doi: 10.1186/s40478-015-0264-5.
RGD ID: 11087038
Pubmed: PMID:26671581   (View Abstract at PubMed)
PMCID: PMC4681033   (View Article at PubMed Central)
DOI: DOI:10.1186/s40478-015-0264-5   (Journal Full-text)

INTRODUCTION: 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.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
high grade glioma  IAGP 11087038; 11087038DNA:gene fusion: :RGD 
high grade glioma  ISOPRKCA (Homo sapiens)11087038; 11087038DNA:gene fusion: :RGD 
high grade glioma  ISOSLC44A1 (Homo sapiens)11087038; 11087038DNA:gene fusion: :RGD 

Objects Annotated

Genes (Rattus norvegicus)
Prkca  (protein kinase C, alpha)
Slc44a1  (solute carrier family 44 member 1)

Genes (Mus musculus)
Prkca  (protein kinase C, alpha)
Slc44a1  (solute carrier family 44, member 1)

Genes (Homo sapiens)
PRKCA  (protein kinase C alpha)
SLC44A1  (solute carrier family 44 member 1)


Additional Information