Papillary glioneuronal tumors

histological and molecular characteristics and diagnostic value of SLC44A1-PRKCA fusion

Melanie Pages, Ludovic Lacroix, Arnault Tauziede-Espariat, David Castel, Estelle Daudigeos-Dubus, Vita Ridola, Sophie Gilles, Frederic Fina, Felipe Andreiuolo, Marc Polivka, Emmanuele Lechapt-Zalcman, Stephanie Puget, Nathalie Boddaert, Xiao Qiong Liu, Julia A. Bridge, Jacques Grill, Fabrice Chretien, Pascale Varlet

Research output: Contribution to journalArticle

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Abstract

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.

Original languageEnglish (US)
Pages (from-to)85
Number of pages1
JournalActa neuropathologica communications
Volume3
DOIs
StatePublished - 2015

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Molecular Pathology
Neoplasms
Fluorescence In Situ Hybridization
Immunohistochemistry
Mutation
DNA Sequence Analysis
Glioma
Cytogenetics
Protein Kinase C

ASJC Scopus subject areas

  • Medicine(all)

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Papillary glioneuronal tumors : histological and molecular characteristics and diagnostic value of SLC44A1-PRKCA fusion. / Pages, Melanie; Lacroix, Ludovic; Tauziede-Espariat, Arnault; Castel, David; Daudigeos-Dubus, Estelle; Ridola, Vita; Gilles, Sophie; Fina, Frederic; Andreiuolo, Felipe; Polivka, Marc; Lechapt-Zalcman, Emmanuele; Puget, Stephanie; Boddaert, Nathalie; Liu, Xiao Qiong; Bridge, Julia A.; Grill, Jacques; Chretien, Fabrice; Varlet, Pascale.

In: Acta neuropathologica communications, Vol. 3, 2015, p. 85.

Research output: Contribution to journalArticle

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 2015, 'Papillary glioneuronal tumors: histological and molecular characteristics and diagnostic value of SLC44A1-PRKCA fusion', Acta neuropathologica communications, vol. 3, pp. 85. https://doi.org/10.1186/s40478-015-0264-5
Pages, Melanie ; Lacroix, Ludovic ; Tauziede-Espariat, Arnault ; Castel, David ; Daudigeos-Dubus, Estelle ; Ridola, Vita ; Gilles, Sophie ; Fina, Frederic ; Andreiuolo, Felipe ; Polivka, Marc ; Lechapt-Zalcman, Emmanuele ; Puget, Stephanie ; Boddaert, Nathalie ; Liu, Xiao Qiong ; Bridge, Julia A. ; Grill, Jacques ; Chretien, Fabrice ; Varlet, Pascale. / Papillary glioneuronal tumors : histological and molecular characteristics and diagnostic value of SLC44A1-PRKCA fusion. In: Acta neuropathologica communications. 2015 ; Vol. 3. pp. 85.
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abstract = "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.",
author = "Melanie Pages and Ludovic Lacroix and Arnault Tauziede-Espariat and David Castel and Estelle Daudigeos-Dubus and Vita Ridola and Sophie Gilles and Frederic Fina and Felipe Andreiuolo and Marc Polivka and Emmanuele Lechapt-Zalcman and Stephanie Puget and Nathalie Boddaert and Liu, {Xiao Qiong} and Bridge, {Julia A.} and Jacques Grill and Fabrice Chretien and Pascale Varlet",
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T2 - histological and molecular characteristics and diagnostic value of SLC44A1-PRKCA fusion

AU - Pages, Melanie

AU - Lacroix, Ludovic

AU - Tauziede-Espariat, Arnault

AU - Castel, David

AU - Daudigeos-Dubus, Estelle

AU - Ridola, Vita

AU - Gilles, Sophie

AU - Fina, Frederic

AU - Andreiuolo, Felipe

AU - Polivka, Marc

AU - Lechapt-Zalcman, Emmanuele

AU - Puget, Stephanie

AU - Boddaert, Nathalie

AU - Liu, Xiao Qiong

AU - Bridge, Julia A.

AU - Grill, Jacques

AU - Chretien, Fabrice

AU - Varlet, Pascale

PY - 2015

Y1 - 2015

N2 - 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.

AB - 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.

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