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1. High-grade gliomas in adolescents and young adults highlight histomolecular differences from their adult and pediatric counterparts

Author

Arnault Tauziède-Espariat, Karima Mokhtari, Steven Knafo, Emmanuel Mandonnet, Pascale Varlet, Fabrice Chrétien, Marc Polivka, Clovis Adam, Johan Pallud, Marie-Anne Debily, Albane Gareton, Dominique Figarella-Branger, Thierry Faillot, Raphaël Saffroy, Marc Sanson, Alexandre Roux, Stéphanie Puget, Mathilde Desplanques, Frédéric Dhermain, Jacques Grill, François Doz, Franck Bourdeaut, Aurélie Dauta, Myriam Edjlali-Goujon, Nathalie Boddaert, Mélanie Pagès, Dominique Cazals-Hatem, Georges Dorfmüller, Institut de neurophysiopathologie (INP), Aix Marseille Université (AMU)-Centre National de la Recherche Scientifique (CNRS), Laboratoire d'Anatomie Pathologique-Neuropathologique [AP-HM Hôpital La Timone], and Hôpital de la Timone [CHU - APHM] (TIMONE)

Subjects
Oncology, Cancer Research, medicine.medical_specialty, [SDV]Life Sciences [q-bio], World health, whole exome sequencing, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, Glioma, glioma, medicine, Young adult, 10. No inequality, Exome sequencing, business.industry, glioblastoma, Retrospective cohort study, medicine.disease, humanities, 3. Good health, Isocitrate dehydrogenase, 030220 oncology & carcinogenesis, Immunohistochemistry, DNA-methylation analysis, Neurology (clinical), Oligodendroglioma, business, 030217 neurology & neurosurgery, integrated diagnosis
Abstract

Background Considering that pediatric high-grade gliomas (HGGs) are biologically distinct from their adult counterparts, the objective of this study was to define the landscape of HGGs in adolescents and young adults (AYAs). Methods We performed a multicentric retrospective study of 112 AYAs from adult and pediatric Ile-de-France neurosurgical units, treated between 1998 and 2013 to analyze their clinicoradiological and histomolecular profiles. The inclusion criteria were age between 15 and 25 years, histopathological HGG diagnosis, available clinical data, and preoperative and follow-up MRI. MRI and tumoral samples were centrally reviewed. Immunohistochemistry and complementary molecular techniques such as targeted/next-generation sequencing, whole exome sequencing, and DNA-methylation analyses were performed to achieve an integrated diagnosis according to the 2016 World Health Organization (WHO) classification. Results Based on 80 documented AYA patients, HGGs constitute heterogeneous clinicopathological and molecular groups, with a predominant representation of pediatric subtypes (histone H3-mutants, 40%) but also adult subtypes (isocitrate dehydrogenase [IDH] mutants, 28%) characterized by the rarity of oligodendrogliomas, IDH mutants, and 1p/19q codeletion and the relative high frequency of “rare adult IDH mutations” (20%). H3G34-mutants (14%) represent the most specific subgroup in AYAs. In the H3K27-mutant subgroup, non-brainstem diffuse midline gliomas are more frequent (66.7%) than diffuse intrinsic pontine gliomas (23.8%), contrary to what is observed in children. We found that WHO grade has no prognostic value, but molecular subgrouping has major prognostic importance. Conclusions HGGs in AYAs could benefit from a specific classification, driven by molecular subtyping rather than age group. Collaborative efforts are needed from pediatric and adult neuro-oncology teams to improve the management of HGGs in AYAs.

Published
2020

2. EZHIP is a specific diagnostic biomarker for posterior fossa ependymomas, group PFA and diffuse midline gliomas H3-WT with EZHIP overexpression

Author

Marie-Anne Debily, Fabrice Chrétien, Mélanie Pagès, Arnault Tauziède-Espariat, Albane Gareton, Felipe Andreiuolo, Antin C, Jacques Grill, David Castel, Emmanuèle Lechapt, Olivier Ayrault, Pascale Varlet, Centre Hospitalier Sainte Anne [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Vectorologie et thérapeutiques anti-cancéreuses [Villejuif] (UMR 8203), Université Paris-Sud - Paris 11 (UP11)-Institut Gustave Roussy (IGR)-Centre National de la Recherche Scientifique (CNRS), Département de cancérologie de l'enfant et de l'adolescent [Gustave Roussy], Institut Gustave Roussy (IGR), Signalisation, radiobiologie et cancer, Institut Curie [Paris]-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Saclay-Centre National de la Recherche Scientifique (CNRS), and Olivier, AYRAULT

Subjects
Pathology, medicine.medical_specialty, Neurology, [SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology, Oligodendroglioma, Posterior fossa, Infratentorial Neoplasms, [SDV.CAN]Life Sciences [q-bio]/Cancer, Astrocytoma, Sensitivity and Specificity, lcsh:RC346-429, Pathology and Forensic Medicine, Histones, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, Text mining, [SDV.CAN] Life Sciences [q-bio]/Cancer, [SDV.BBM.GTP]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], Medicine, Diagnostic biomarker, Humans, Letter to the Editor, lcsh:Neurology. Diseases of the nervous system, ComputingMilieux_MISCELLANEOUS, 030304 developmental biology, Oncogene Proteins, 0303 health sciences, business.industry, Brain Neoplasms, [SDV.NEU.NB] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology, Glioma, Ependymoma, [SDV.BBM.GTP] Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], Neurology (clinical), business, Glioblastoma, 030217 neurology & neurosurgery
Abstract

International audience

Published
2020

3. Aberrant ERBB4-SRC Signaling as a Hallmark of Group 4 Medulloblastoma Revealed by Integrative Phosphoproteomic Profiling

Author

Laura Sieber, Celio Pouponnot, Sebastian Brabetz, Lukas Chavez, Anaïs Chivet, Florent Dingli, Aurore Besnard, Stéphanie Puget, Tanvi Sharma, Frauke Meyer, Audrey Mercier, Antoine Forget, Mélanie Pagès, Stéphane Liva, Laurence Calzone, Guillaume Arras, Jasmin Bartl, Michael Gombert, Marcel Kool, Hua Yu, Emilie Indersie, Olivier Ayrault, Konstantin Okonechnikov, Arnau Montagud, Venu Thatikonda, Daisuke Kawauchi, Franck Bourdeaut, Pascale Varlet, Vijay Ramaswamy, Joelle Lacombe, Patrick Poullet, Stefan M. Pfister, Arndt Borkhardt, Emmanuel Barillot, Jaime Rivera, Nan Qin, Christelle Dufour, Sophie Leboucher, Andrey Korshunov, Daniel Picard, Alexandre Sta, Guido Reifenberger, Michael D. Taylor, Marc Remke, Damarys Loew, Loredana Martignetti, Kevin Beccaria, Institut Jacques Monod (IJM (UMR_7592)), Université Paris Diderot - Paris 7 (UPD7)-Centre National de la Recherche Scientifique (CNRS), Cancer et génome: Bioinformatique, biostatistiques et épidémiologie d'un système complexe, Mines Paris - PSL (École nationale supérieure des mines de Paris), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Institut Curie [Paris]-Institut National de la Santé et de la Recherche Médicale (INSERM), PRES Sorbonne Paris Cité, Service de Bioinformatique (CURIE-BIOINFO), Institut Curie [Paris], Laboratoire de Spectrométrie de Masse des Protéines (LSMP), Institut de biologie structurale (IBS - UMR 5075 ), Centre National de la Recherche Scientifique (CNRS)-Université Grenoble Alpes [2016-2019] (UGA [2016-2019])-Institut de Recherche Interdisciplinaire de Grenoble (IRIG), Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Centre National de la Recherche Scientifique (CNRS)-Université Grenoble Alpes [2016-2019] (UGA [2016-2019])-Institut de Recherche Interdisciplinaire de Grenoble (IRIG), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA), Laboratoire de Spectrométrie de Masse Protéomique, Ecole Polytechnique Féminine ((EPF)), Ecole d'Ingénieurs, Centre de Psychiatrie et Neurosciences (U894), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Département de cancérologie de l'enfant et de l'adolescent [Gustave Roussy], Institut Gustave Roussy (IGR), Laboratoire de neurobiologie cellulaire et moléculaire (NBCM), Centre National de la Recherche Scientifique (CNRS), Signalisation normale et pathologique de l'embryon aux thérapies innovantes des cancers, Institut Curie [Paris]-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Biothérapies des maladies génétiques et cancers, Université Bordeaux Segalen - Bordeaux 2-Institut National de la Santé et de la Recherche Médicale (INSERM), Université Paris Descartes - Faculté de Médecine (UPD5 Médecine), Université Paris Descartes - Paris 5 (UPD5), Beijing Genomics Institute [Shenzhen] (BGI), Unité de Génétique Somatique, Division of Pediatric Neurooncology, German Cancer Research Center (DKFZ), Heidelberg, Germany, Department of Neuropathology, Heinrich Heine Universität Düsseldorf = Heinrich Heine University [Düsseldorf], German Cancer Research Center - Deutsches Krebsforschungszentrum [Heidelberg] (DKFZ), Signalisation cellulaire et neurobiologie (SNC), Institut Curie [Paris]-MINES ParisTech - École nationale supérieure des mines de Paris, Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université Grenoble Alpes [2016-2019] (UGA [2016-2019])-Institut de Recherche Interdisciplinaire de Grenoble (IRIG), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Centre National de la Recherche Scientifique (CNRS), Institut de psychiatrie et neurosciences (U894 / UMS 1266), Cancer et génôme: Bioinformatique, biostatistiques et épidémiologie d'un système complexe, MINES ParisTech - École nationale supérieure des mines de Paris-Institut Curie-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut Curie, Institut de biologie structurale (IBS - UMR 5075), Institut de Recherche Interdisciplinaire de Grenoble (IRIG), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Grenoble Alpes (UGA)-Centre National de la Recherche Scientifique (CNRS)-Institut de Recherche Interdisciplinaire de Grenoble (IRIG), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Grenoble Alpes (UGA)-Centre National de la Recherche Scientifique (CNRS), Signalisation normale et pathologique de l'embryon aux thérapies innovante des cancers, Institut Curie-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), and Heinrich-Heine-Universität Düsseldorf [Düsseldorf]

Subjects
0301 basic medicine, Male, Proteomics, Cancer Research, Receptor, ErbB-4, Adolescent, Proteome, Carcinogenesis, [SDV]Life Sciences [q-bio], Mice, Transgenic, [SDV.CAN]Life Sciences [q-bio]/Cancer, Transcriptome, 03 medical and health sciences, Mice, Cell Line, Tumor, Cerebellum, medicine, Animals, Humans, Sonic hedgehog, Kinase activity, Phosphorylation, Cerebellar Neoplasms, Child, neoplasms, ERBB4, ComputingMilieux_MISCELLANEOUS, Medulloblastoma, biology, Gene Expression Profiling, Infant, Cell Biology, medicine.disease, Proteogenomics, nervous system diseases, Gene Expression Regulation, Neoplastic, stomatognathic diseases, 030104 developmental biology, src-Family Kinases, Oncology, Child, Preschool, biology.protein, Cancer research, Female, Proto-oncogene tyrosine-protein kinase Src, Signal Transduction
Abstract

Summary The current consensus recognizes four main medulloblastoma subgroups (wingless, Sonic hedgehog, group 3 and group 4). While medulloblastoma subgroups have been characterized extensively at the (epi-)genomic and transcriptomic levels, the proteome and phosphoproteome landscape remain to be comprehensively elucidated. Using quantitative (phospho)-proteomics in primary human medulloblastomas, we unravel distinct posttranscriptional regulation leading to highly divergent oncogenic signaling and kinase activity profiles in groups 3 and 4 medulloblastomas. Specifically, proteomic and phosphoproteomic analyses identify aberrant ERBB4-SRC signaling in group 4. Hence, enforced expression of an activated SRC combined with p53 inactivation induces murine tumors that resemble group 4 medulloblastoma. Therefore, our integrative proteogenomics approach unveils an oncogenic pathway and potential therapeutic vulnerability in the most common medulloblastoma subgroup.

Published
2018

4. Interactions between glioma and pregnancy: insight from a 52-case multicenter series

Author

Guillaume Gauchotte, Mélanie Pagès, Fabrice Chrétien, Thierry Lesimple, M. Lopes, Stéphanie Cartalat-Carel, Philippe Menei, Catherine Miquel, Patrick Beauchesne, Philippe Colin, Luc Taillandier, Johan Pallud, Marc Zanello, Jean Stecken, Marc Debouverie, Denys Fontaine, Luc Bauchet, Didier Frappaz, Catherine Oppenheim, Emmanuel Jouanneau, Sophie Peeters, Pascale Varlet, Elisabeth Moyal, Jean-Sébastien Guillamo, Laurence Bozec, Christophe Deroulers, Olivier De Witte, Jean-Yves Delattre, Laurent Capelle, Hugues Duffau, Hospices Civils de Lyon (HCL), Service de Neurophysiologie Clinique [CHU Pitié-Salpêtrière], Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Pitié-Salpêtrière [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (APHP), Imagerie et Modélisation en Neurobiologie et Cancérologie (IMNC (UMR_8165)), Université Paris-Sud - Paris 11 (UP11)-Institut National de Physique Nucléaire et de Physique des Particules du CNRS (IN2P3)-Université Paris Diderot - Paris 7 (UPD7)-Centre National de la Recherche Scientifique (CNRS), Service de Neurophysiologie [CHU Pitié-Salpêtrière], CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), and Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)

Subjects
Adult, medicine.medical_specialty, Malignancy, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Pregnancy, Glioma, medicine, Humans, Retrospective Studies, [PHYS]Physics [physics], Brain Neoplasms, Vaginal delivery, Obstetrics, business.industry, Pregnancy Outcome, Retrospective cohort study, General Medicine, medicine.disease, Survival Analysis, 3. Good health, Surgery, Natural history, Tumor progression, 030220 oncology & carcinogenesis, Disease Progression, Gestation, Female, business, Pregnancy Complications, Neoplastic, 030217 neurology & neurosurgery, Follow-Up Studies
Abstract

OBJECTIVEThe goal of this study was to provide insight into the influence of gliomas on gestational outcomes, the impact of pregnancy on gliomas, and the identification of patients at risk.METHODSIn this multiinstitutional retrospective study, the authors identified 52 pregnancies in 50 women diagnosed with a glioma.RESULTSFor gliomas known prior to pregnancy (n = 24), we found the following: 1) An increase in the quantified imaging growth rates occurred during pregnancy in 87% of cases. 2) Clinical deterioration occurred in 38% of cases, with seizures alone resolving after delivery in 57.2% of cases. 3) Oncological treatments were immediately performed after delivery in 25% of cases. For gliomas diagnosed during pregnancy (n = 28), we demonstrated the following: 1) The tumor was discovered during the second and third trimesters in 29% and 54% of cases, respectively, with seizures being the presenting symptom in 68% of cases. 2) The quantified imaging growth rates did not significantly decrease after delivery and before oncological treatment. 3) Clinical deterioration resolved after delivery in 21.4% of cases. 4) Oncological treatments were immediately performed after delivery in 70% of cases. Gliomas with a high grade of malignancy, negative immunoexpression of alpha-internexin, or positive immunoexpression for p53 were more likely to be associated with tumor progression during pregnancy. Deliveries were all uneventful (cesarean section in 54.5% of cases and vaginal delivery in 45.5%), and the infants were developmentally normal.CONCLUSIONSWhen a woman harboring a glioma envisions a pregnancy, or when a glioma is discovered in a pregnant patient, the authors suggest informing her and her partner that pregnancy may impact the evolution of the glioma clinically and radiologically. They strongly advise a multidisciplinary approach to management.■ CLASSIFICATION OF EVIDENCE Type of question: association; study design: case series; evidence: Class IV.

Published
2018

5. Arterial Spin Labeling to Predict Brain Tumor Grading in Children: Correlations between Histopathologic Vascular Density and Perfusion MR Imaging

Author

Francis Brunelle, Thomas Blauwblomme, David Grevent, Christian Sainte-Rose, Pascale Varlet, Stéphanie Puget, Christelle Dufour, Mathilde Badoual, Nathalie Boddaert, Eimad Shotar, Mélanie Pagès, Volodia Dangouloff-Ros, Frantz Foissac, Raphael Calmon, Michel Zerah, Christophe Deroulers, Jacques Grill, Neuroimagerie en psychiatrie (U1000), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Sud - Paris 11 (UP11), Imagerie et Modélisation en Neurobiologie et Cancérologie (IMNC (UMR_8165)), Université Paris-Sud - Paris 11 (UP11)-Institut National de Physique Nucléaire et de Physique des Particules du CNRS (IN2P3)-Université Paris Diderot - Paris 7 (UPD7)-Centre National de la Recherche Scientifique (CNRS), Evaluation thérapeutique et pharmacologie périnatale et pédiatrique (EA_7323), Université Paris Descartes - Paris 5 (UPD5), Université Paris Descartes - Faculté de Médecine (UPD5 Médecine), Service de pédiatrie générale [CHU Necker], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), PRES Sorbonne Paris Cité, Département de cancérologie de l'enfant et de l'adolescent [Gustave Roussy], Institut Gustave Roussy (IGR), Université Paris-Sud - Paris 11 (UP11)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université Paris-Sud - Paris 11 (UP11)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5), and Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Necker - Enfants Malades [AP-HP]

Subjects
Male, medicine.medical_specialty, Adolescent, Brain tumor, Contrast Media, [PHYS.NEXP]Physics [physics]/Nuclear Experiment [nucl-ex], Sensitivity and Specificity, 030218 nuclear medicine & medical imaging, 03 medical and health sciences, 0302 clinical medicine, Interquartile range, medicine, Humans, Radiology, Nuclear Medicine and imaging, Child, Grading (tumors), ComputingMilieux_MISCELLANEOUS, Retrospective Studies, medicine.diagnostic_test, Brain Neoplasms, business.industry, Microvascular Density, Infant, Magnetic resonance imaging, medicine.disease, Confidence interval, Cerebral blood flow, Cerebrovascular Circulation, Child, Preschool, Female, Spin Labels, Radiology, Neoplasm Grading, Nuclear medicine, business, Perfusion, Magnetic Resonance Angiography, 030217 neurology & neurosurgery
Abstract

Purpose To compare arterial spin labeling (ASL) data between low- and high-grade brain tumors in children to establish a cutoff to distinguish low- from high-grade neoplasms and to assess potential correlations between cerebral blood flow (CBF) and quantitative histologic microvascular data. Materials and Methods Approval was obtained from the regional review board. ASL data obtained in 129 children between 2011 and 2015 were retrospectively analyzed. CBF and relative CBF in the most perfused area of each neoplasm and contrast enhancement were quantified with a semiquantitative ratio. The correlation between CBF and microvascular density was analyzed in specimens stained with anti-CD34. Results were controlled in two validation cohorts with 1.5- and 3.0-T magnetic resonance (MR) imaging. Results Mean CBF was significantly higher for high-grade than for low-grade hemispheric (116 mL/min/100 g [interquartile range {IQR}, 73-131 mL/min/100 g] vs 29 mL/min/100 g [IQR, 23-35 29 mL/min/100 g], P < .001), thalamic (87 mL/min/100 g [IQR, 73-100 mL/min/100 g] vs 36 mL/min/100 g [IQR, 30-40 mL/min/100 g], P = .016), and posterior fossa (59 mL/min/100 g [IQR, 45-91 mL/min/100 g] vs 33 mL/min/100 g [IQR, 25-40 mL/min/100 g], P < .001) tumors. With a cutoff of 50 mL/min/100 g, sensitivity and specificity were 90% (95% confidence interval [CI]: 68, 100) and 93% (95% CI: 66, 100), respectively, for hemispheric tumors; 100% (95% CI: 48, 100) and 80% (95% CI: 28, 100), respectively, for thalamic tumors; and 65% (95% CI: 51, 78) and 94% (95% CI: 80, 99), respectively, for posterior fossa tumors. In posterior fossa tumors, additional use of the CBF-to-contrast enhancement ratio yielded sensitivity and specificity of 96% (95% CI: 87, 100) and 97% (95% CI: 84, 100), respectively. Use of a simple algorithm based on these values yielded an accuracy of 93% (95% CI: 87, 97). Validation sets yielded similar results, with grading accuracy of 88% (95% CI: 62, 98) with 1.5-T MR imaging and 77% (95% CI: 46, 95) with 3.0-T MR imaging. CBF was strongly correlated with microvascular density (R = 0.66, P < .001). Conclusion High-grade pediatric brain tumors display higher CBF than do low-grade tumors, and they may be accurately graded by using these values. CBF is correlated with tumor microvascular density. © RSNA, 2016 Online supplemental material is available for this article.

Published
2016

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

Author

Ludovic Lacroix, Felipe Andreiuolo, Fabrice Chrétien, Frédéric Fina, Pascale Varlet, Arnault Tauziède-Espariat, Stéphanie Puget, Julia A. Bridge, David Castel, Emmanuèle Lechapt-Zalcman, Xiao Qiong Liu, Estelle Daudigeos-Dubus, Vita Ridola, Marc Polivka, Nathalie Boddaert, Mélanie Pagès, Jacques Grill, Sophie Gilles, Neuroimagerie en psychiatrie (U1000), Université Paris-Sud - Paris 11 (UP11)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5), Centre Hospitalier Sainte Anne [Paris], Département de biologie et pathologie médicales [Gustave Roussy], Institut Gustave Roussy (IGR), Vectorologie et thérapeutiques anti-cancéreuses [Villejuif] (UMR 8203), Université Paris-Sud - Paris 11 (UP11)-Institut Gustave Roussy (IGR)-Centre National de la Recherche Scientifique (CNRS), Département de cancérologie de l'enfant et de l'adolescent [Gustave Roussy], Hôpital Lariboisière, Imagerie et Stratégies Thérapeutiques des pathologies Cérébrales et Tumorales (ISTCT), Université de Caen Normandie (UNICAEN), Normandie Université (NU)-Normandie Université (NU)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Centre National de la Recherche Scientifique (CNRS), Laboratoire d'Anatomie Pathologique [CHU Caen], Normandie Université (NU)-Normandie Université (NU)-CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)-Tumorothèque de Caen Basse-Normandie (TCBN), CHU Necker - Enfants Malades [AP-HP], University of Nebraska Medical Center, University of Nebraska System, Histopathologie humaine et Modèles animaux, Institut Pasteur [Paris], Institut de psychiatrie et neurosciences (U894 / UMS 1266), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université Paris-Sud - Paris 11 (UP11)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Hôpital Lariboisière-Fernand-Widal [APHP], Institut Pasteur [Paris] (IP), Centre de Psychiatrie et Neurosciences (U894), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Sud - Paris 11 (UP11), Centre National de la Recherche Scientifique (CNRS)-Institut Gustave Roussy (IGR)-Université Paris-Sud - Paris 11 (UP11), CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)-Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)-Université de Caen Normandie (UNICAEN), Normandie Université (NU), Neuroimagerie en psychiatrie ( U1000 ), Université Paris-Sud - Paris 11 ( UP11 ) -Commissariat à l'énergie atomique et aux énergies alternatives ( CEA ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Université Paris Descartes - Paris 5 ( UPD5 ), Institut Gustave Roussy ( IGR ), Vectorologie et thérapeutiques anti-cancéreuses [Villejuif] ( UMR 8203 ), Université Paris-Sud - Paris 11 ( UP11 ) -Institut Gustave Roussy ( IGR ) -Centre National de la Recherche Scientifique ( CNRS ), Imagerie et Stratégies Thérapeutiques des pathologies Cérébrales et Tumorales ( ISTCT ), Université de Caen Normandie ( UNICAEN ), Normandie Université ( NU ) -Normandie Université ( NU ) -Centre National de la Recherche Scientifique ( CNRS ) -Commissariat à l'énergie atomique et aux énergies alternatives ( CEA ), Laboratoire d'Anatomie Pathologique [Caen], Normandie Université ( NU ) -Normandie Université ( NU ) -CHU Caen, Centre de Psychiatrie et Neurosciences ( CPN - U894 ), and Université Paris Descartes - Paris 5 ( UPD5 ) -Institut National de la Santé et de la Recherche Médicale ( INSERM )

Subjects
Male, Pathology, [SDV]Life Sciences [q-bio], Antigens, CD34, medicine.disease_cause, Ganglioglioma, 0302 clinical medicine, KIAA-BRAF, Child, ganglioglioma, Mutation, medicine.diagnostic_test, Brain Neoplasms, Kinase, Glioma, Magnetic Resonance Imaging, Neoplasms, Neuroepithelial, 3. Good health, angiocentric neuroepithelial tumors, SLC44A1-PRKCA, Child, Preschool, 030220 oncology & carcinogenesis, Immunohistochemistry, Female, Oncogene Fusion, Adult, medicine.medical_specialty, Protein Kinase C-alpha, Adolescent, Organic Cation Transport Proteins, MAP Kinase Signaling System, Papillary glioneuronal tumor, Nerve Tissue Proteins, BRAF, Pathology and Forensic Medicine, Young Adult, 03 medical and health sciences, Cellular and Molecular Neuroscience, Western blot, Antigens, CD, medicine, Humans, Receptor, Fibroblast Growth Factor, Type 1, rosette-forming glioneuronal tumors of the fourth ventricle, [ SDV ] Life Sciences [q-bio], business.industry, Research, medicine.disease, MAPK, FGFR1, Neurology (clinical), business, 030217 neurology & neurosurgery, Fluorescence in situ hybridization
Abstract

International audience; 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.

Published
2015

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