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1. Helical tomotherapy craniospinal irradiation in primary brain tumours: Toxicities and outcomes in a peadiatric and adult population

Author

Julie Savagner, Anne Ducassou, Bastien Cabarrou, Gregory Hangard, Marion Gambart, Anne-Isabelle Bertozzi, Eloise Baudou, Sergio Boetto, Delphine Larrieu, and Anne Laprie

Subjects
Craniospinal irradiation, Helical tomotherapy, Brain tumour, Medulloblastoma, Pediatric cancer, Late effects, Medical physics. Medical radiology. Nuclear medicine, R895-920, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282
Abstract

Objective: As craniospinal irradiation (CSI) is delivered more frequently by helical tomotherapy (HT) with few reports about late effects, we analysed all patients treated in our centre over an 11-year period. Methods and materials: Our study included all patients that underwent CSI by HT, between September 2009 and January 2020, in the Department of Radiation Oncology of the Toulouse Cancer Institute. Acute radiotherapy toxicities were reported and medium- to long-term outcomes analysed. Results: Among the 79 patients included, 70.9 % were younger than 18 years at diagnosis, the median age was 13 (range: 1–52) at the time of radiation therapy, 67.1 % of patients had medulloblastoma. Half of them (49.4 %) had a metastatic disease at diagnosis. The median dose of CSI was 36 Gy (range, 18–36). Seventy-seven patients received a radiation boost to the original location of the primary tumour (97.5 %), 32 patients also received a boost to their metastatic sites (40.5 %). Median follow-up was 55.5 months (95 %CI = [41.2; 71.8]). The 3-year event-free survival rate was 66.3 % (95 %CI = [54.2; 75.9]). Most patients presented with acute haematological toxicities during CSI (85.9 %), predominantly severe thrombocytopenia (39.7 %). Among the 64 patients assessed for medium- and long-term outcomes, 52 survived and 47 were alive and disease-free at the latest follow-up visit on record. There were 3.8 % secondary tumours: two meningiomas and one diffuse intrinsic pontine glioma. Adult and paediatric patients respectively presented with secondary cataract (4.3 % vs 22.0 %), persistent hearing disorders (26.1 % vs 29.3 %), pulmonary or cardiac late effects (4.3 % vs 2.4 %), hormonal pituitary gland deficiencies (30.0 % vs 56.8 %) and psycho-cognitive disorders (56.5 % vs 53.7 %). Conclusion: CSI dispensed by HT, did not result in any additional acute or late toxicities when compared to 3D-CSI. There was no increase in the secondary tumour rate compared to that reported in the literature.

Published
2024
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2. Disseminated diffuse midline gliomas, H3K27-altered mimicking diffuse leptomeningeal glioneuronal tumors: a diagnostical challenge!

Author

Arnault Tauziède-Espariat, Aurore Siegfried, Emmanuelle Uro-Coste, Yvan Nicaise, David Castel, Annick Sevely, Marion Gambart, Sergio Boetto, Lauren Hasty, Alice Métais, Fabrice Chrétien, Joseph Benzakoun, Stéphanie Puget, Jacques Grill, Volodia Dangouloff-Ros, Nathalie Boddaert, Azadeh Ebrahimi, Pascale Varlet, and the RENOCLIP-LOC Network

Subjects
Neurology. Diseases of the nervous system, RC346-429
Published
2022
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3. Pediatric methylation class HGNET-MN1: unresolved issues with terminology and grading

Author

Arnault Tauziède-Espariat, Mélanie Pagès, Alexandre Roux, Aurore Siegfried, Emmanuelle Uro-Coste, Yvan Nicaise, Annick Sevely, Marion Gambart, Sergio Boetto, Martin Dupuy, Pomone Richard, Romain Perbet, Matthieu Vinchon, Sabine Caron, Felipe Andreiuolo, Albane Gareton, Emmanuèle Lechapt, Fabrice Chrétien, Stéphanie Puget, Jacques Grill, Nathalie Boddaert, Pascale Varlet, and on behalf of the RENOCLIP-LOC

Subjects
MN1, HGNET, Astroblastoma, Meta-analysis, Neurology. Diseases of the nervous system, RC346-429
Published
2019
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4. Dose-painting multicenter phase III trial in newly diagnosed glioblastoma: the SPECTRO-GLIO trial comparing arm A standard radiochemotherapy to arm B radiochemotherapy with simultaneous integrated boost guided by MR spectroscopic imaging

Author

Anne Laprie, Soléakhéna Ken, Thomas Filleron, Vincent Lubrano, Laure Vieillevigne, Fatima Tensaouti, Isabelle Catalaa, Sergio Boetto, Jonathan Khalifa, Justine Attal, Guillaume Peyraga, Carlos Gomez-Roca, Emmanuelle Uro-Coste, Georges Noel, Gilles Truc, Marie-Pierre Sunyach, Nicolas Magné, Marie Charissoux, Stéphane Supiot, Valérie Bernier, Muriel Mounier, Muriel Poublanc, Amandine Fabre, Jean-Pierre Delord, and Elizabeth Cohen-Jonathan Moyal

Subjects
Glioblastoma, Dose-painting, Magnetic resonance spectroscopic imaging, Spectroscopy, Proton spectroscopy, Radiotherapy, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282
Abstract

Abstract Background Glioblastoma, a high-grade glial infiltrating tumor, is the most frequent malignant brain tumor in adults and carries a dismal prognosis. External beam radiotherapy (EBRT) increases overall survival but this is still low due to local relapses, mostly occurring in the irradiation field. As the ratio of spectra of choline/N acetyl aspartate> 2 (CNR2) on MR spectroscopic imaging has been described as predictive for the site of local relapse, we hypothesized that dose escalation on these regions would increase local control and hence global survival. Methods/design In this multicenter prospective phase III trial for newly diagnosed glioblastoma, 220 patients having undergone biopsy or surgery are planned for randomization to two arms. Arm A is the Stupp protocol (EBRT 60 Gy on contrast enhancement + 2 cm margin with concomitant temozolomide (TMZ) and 6 months of TMZ maintenance); Arm B is the same treatment with an additional simultaneous integrated boost of intensity-modulated radiotherapy (IMRT) of 72Gy/2.4Gy delivered on the MR spectroscopic imaging metabolic volumes of CHO/NAA > 2 and contrast-enhancing lesions or resection cavity. Stratification is performed on surgical and MGMT status. Discussion This is a dose-painting trial, i.e. delivery of heterogeneous dose guided by metabolic imaging. The principal endpoint is overall survival. An online prospective quality control of volumes and dose is performed in the experimental arm. The study will yield a large amount of longitudinal multimodal MR imaging data including planning CT, radiotherapy dosimetry, MR spectroscopic, diffusion and perfusion imaging. Trial registration NCT01507506, registration date December 20, 2011.

Published
2019
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5. Reversible Cerebral Vasoconstriction Syndrome with Intracranial Hypertension: Should Decompressive Craniectomy Be Considered

Author

Ségolène Mrozek, Laurent Lonjaret, Aude Jaffre, Anne-Christine Januel, Nicolas Raposo, Sergio Boetto, Jean-François Albucher, Olivier Fourcade, and Thomas Geeraerts

Subjects
Reversible cerebral vasoconstriction syndrome, Decompressive craniectomy, Intracerebral hemorrhage, Intracranial hypertension, Neurology. Diseases of the nervous system, RC346-429
Abstract

Background: Reversible cerebral vasoconstriction syndrome (RCVS) is a rare cause of intracerebral hemorrhage (ICH) causing intracranial hypertension. Methods: Case report. Results: We report a case of RCVS-related ICH leading to refractory intracranial hypertension. A decompressive craniectomy was performed to control intracranial pressure. We discuss here the management of RCVS with intracranial hypertension. Decompressive craniectomy was preformed to avoid the risky option of high cerebral perfusion pressure management with the risk of bleeding, hemorrhagic complications, and high doses of norepinephrine. Neurological outcome was good. Conclusion: RCVS has a complex pathophysiology and can be very difficult to manage in cases of intracranial hypertension. Decompressive craniectomy should probably be considered.

Published
2017
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7. Chiari malformation type I surgery in children: French multicenter 10-year cohort

Author

Edouard Mazerand, Sandro Benichi, Maxime Taverne, Giovanna Paternoster, Alice Rolland, Pierre Antherieu, Julien Todeschi, Lawrence Kamdem Noumoye, Vianney Gilard, Maxime Bretonnier, Luc Le Fournier, Vincent Jecko, Edouard Gimbert, François Proust, Sergio Boetto, Thomas Roujeau, Syril James, Roman H. Khonsari, Laurent Riffaud, Matthieu Delion, Michel Zerah, and Didier Scavarda

Subjects
Cohort Studies, Treatment Outcome, Humans, General Medicine, Dura Mater, Child, Decompression, Surgical, Arnold-Chiari Malformation, Retrospective Studies
Abstract

OBJECTIVE Chiari malformation type I (CM-I) is frequent in children and remains a surgical challenge. Several techniques have been described for posterior fossa decompression. No decision algorithm has been validated, and strategies are highly variable between institutions. The goal of this study was to define therapeutic guidelines that take into consideration patient specificities. METHODS The authors retrospectively collected data from patients who were < 18 years of age, were diagnosed with CM-I, and were treated surgically between 2008 and 2018 in 8 French pediatric neurosurgical centers. Data on clinical features, morphological parameters, and surgical techniques were collected. Clinical outcomes at 3 and 12 months after surgery were assessed by the Chicago Chiari Outcome Scale. The authors used a hierarchical clustering method to define clusters of patients by considering their anatomical similarities, and then compared outcomes between surgical strategies in each of these clusters. RESULTS Data from 255 patients were collected. The mean age at surgery was 9.6 ± 5.0 years, syringomyelia was reported in 60.2% of patients, the dura mater was opened in 65.0% of patients, and 17.3% of patients underwent a redo surgery for additional treatment. The mean Chicago Chiari Outcome Scale score was 14.4 ± 1.5 at 3 months (n = 211) and 14.6 ± 1.9 at 12 months (n = 157). The hierarchical clustering method identified three subgroups with potentially distinct mechanisms underlying tonsillar herniation: bony compression, basilar invagination, and foramen magnum obstruction. Each cluster matched with specific outcomes. CONCLUSIONS This French multicenter retrospective cohort study enabled the identification of three subgroups among pediatric patients who underwent surgery for CM-I, each of which was associated with specific outcomes. This morphological classification of patients might help in understanding the underlying mechanisms and providing personalized treatment.

Published
2021

8. Mechanical properties of fused sagittal sutures in scaphocephaly

Author

Frédéric Lauwers, Franck Delanoé, Erik Estivalèzes, Pascal Swider, Pauline Assemat, Sergio Boetto, Florian Jalbert, Institut de mécanique des fluides de Toulouse (IMFT), Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Centre National de la Recherche Scientifique (CNRS)-Institut National Polytechnique (Toulouse) (Toulouse INP), Université Fédérale Toulouse Midi-Pyrénées, Centre Hospitalier Universitaire de Toulouse, Centre National de la Recherche Scientifique - CNRS (FRANCE), Institut National Polytechnique de Toulouse - Toulouse INP (FRANCE), Université Toulouse III - Paul Sabatier - UT3 (FRANCE), and Centre Hospitalier Universitaire de Toulouse - CHU Toulouse (FRANCE)

Subjects
Male, Mécanique des fluides, Population, Biophysics, Craniosynostosis, [SPI.MECA.MEFL]Engineering Sciences [physics]/Mechanics [physics.med-ph]/Fluids mechanics [physics.class-ph], Mechanobiology, 03 medical and health sciences, Craniosynostoses, 0302 clinical medicine, Suture (anatomy), Cranial vault, medicine, Morphogenesis, Humans, Orthopedics and Sports Medicine, Biomechanics, education, education.field_of_study, Sutures, business.industry, Biomécanique, Skull, Scaphocephaly, Infant, Newborn, [SPI.MECA.BIOM]Engineering Sciences [physics]/Mechanics [physics.med-ph]/Biomechanics [physics.med-ph], Infant, Paediatrics, 030229 sport sciences, Anatomy, Cranial Sutures, medicine.disease, Sagittal plane, Sagittal suture, medicine.anatomical_structure, Female, business, Parietal bone, 030217 neurology & neurosurgery
Abstract

International audience; Background: Craniosynostosis in newborns is caused by the premature closure of the cranial sutures leading to cranial vault deformity. It results in aesthetic imbalance and developmental disabilities and surgery is frequent during the first months of growth. Our study focused on scaphocephaly defined as the premature closure of the sagittal suture. We hypothesised that the effective mechanical properties of sutures were altered as compared to those of the parietal adjacent tissue considered as control.Methods: The population consisted of seven males and four females (mean age 4.9 months). Sixteen suture samples and thirty-four parietal tissue samples were harvested during corrective surgery and investigated by using three-point bending tests to obtain the structure-stiffness of specimens. An energy model was used to derive the effective Young’s modulus. A histological study complemented the experimental protocol.Findings: Fused sutures were thicker than adjacent bone and the natural curvature of sutures did not influence the static mechanical response. The stiffness of stenotic sutures was significantly higher than that of the parietal bone. The effective Young’s modulus of stenotic sutures was significantly lower than that of the parietal adjacent tissue. The parietal tissue showed a parallel bone architecture whereas the central stenotic tissue was disorganised with more vascularisation.Interpretation: The stenotic suture differed in structural and mechanical terms from the adjacent bone during calvarial growth in the first year of life. Our study emphasised the alteration of effective tissue properties in craniosynostosis. Keywords: scaphocephaly, craniosynostosis, biomechanics, mechanobiology, paediatrics, morphogenesis.

Published
2021
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9. Impact de la pandémie COVID-19 sur la neurochirurgie pédiatrique en France

Author

Edouard Gimbert, Thomas Roujeau, Carmine Mottolese, G. Coll, A. Bohra, M. Delion, F. Di Rocco, Alexandru Szathmari, A. Coca, Sergio Boetto, Matthieu Vinchon, Laurent Riffaud, Michel Zerah, N. Chivoret, S. Ferrand, Didier Scavarda, Thomas Blauwblomme, Université de Lille, LillOA, CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Institut de Neurosciences des Systèmes (INS), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Maladies RAres du DEveloppement embryonnaire et du MEtabolisme : du Phénotype au Génotype et à la Fonction - ULR 7364 (RADEME), Université de Lille-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Institut des sciences cognitives Marc Jeannerod - Centre de neuroscience cognitive - UMR5229 (CNC), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Centre National de la Recherche Scientifique (CNRS), Service de neurochirurgie [Rennes] = Neurosurgery [Rennes], CHU Pontchaillou [Rennes], Université de Lyon, Institut des sciences cognitives Marc Jeannerod - Centre de neuroscience cognitive - UMR5229 (ISC-MJ), Service de neurochirurgie [Rennes], Université de Rennes 1 (UR1), and Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Hôpital Pontchaillou-CHU Pontchaillou [Rennes]

Subjects
Gynecology, 2019-20 coronavirus outbreak, medicine.medical_specialty, Coronavirus disease 2019 (COVID-19), business.industry, Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), [SDV]Life Sciences [q-bio], Clinical Neurology, [SDV] Life Sciences [q-bio], 03 medical and health sciences, 0302 clinical medicine, 030220 oncology & carcinogenesis, Medicine, Surgery, Neurology (clinical), business, Éditorial De La Rédaction, 030217 neurology & neurosurgery, ComputingMilieux_MISCELLANEOUS
Abstract

Neurochirurgie - Sous presse. Manuscrit accepte. Disponible en ligne depuis le mercredi 3 juin 2020

Published
2020
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10. Pediatric methylation class HGNET-MN1: unresolved issues with terminology and grading

Author

Pascale Varlet, Fabrice Chrétien, Stéphanie Puget, Sergio Boetto, Arnault Tauziède-Espariat, Felipe Andreiuolo, Matthieu Vinchon, Marion Gambart, J. Grill, Pomone Richard, Annick Sevely, Mélanie Pagès, Emmanuèle Lechapt, Romain Perbet, Yvan Nicaise, Martin Dupuy, Sabine Caron, Nathalie Boddaert, Aurore Siegfried, Albane Gareton, Emmanuelle Uro-Coste, and Alexandre Roux

Subjects
medicine.medical_specialty, Astroblastoma, lcsh:RC346-429, Pathology and Forensic Medicine, Terminology, Cellular and Molecular Neuroscience, medicine, Humans, Medical physics, Grading (tumors), Letter to the Editor, lcsh:Neurology. Diseases of the nervous system, MN1, business.industry, Brain Neoplasms, Tumor Suppressor Proteins, medicine.disease, Neoplasms, Neuroepithelial, Meta-analysis, HGNET, Trans-Activators, Neurology (clinical), Neoplasm Grading, business, Follow-Up Studies
Published
2019

11. Infantile Hemangioma of the Posterior Fossa in a Newborn: Early Management and Long-Term Follow-up

Author

Marie-Bernadette Delisle, Claude Cances, Elsa Haine, Sergio Boetto, and Annick Sevely

Subjects
Male, medicine.medical_specialty, Adolescent, Posterior fossa, Infratentorial Neoplasms, Neurological examination, Hemangioma, Lesion, 03 medical and health sciences, 0302 clinical medicine, medicine, Humans, Involution (medicine), Hemangioma, Capillary, Pathological, medicine.diagnostic_test, business.industry, Capillary hemangioma, Infant, Newborn, Brain, General Medicine, medicine.disease, Surgery, Treatment Outcome, 030220 oncology & carcinogenesis, Infratentorial Neoplasm, Pediatrics, Perinatology and Child Health, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery, Follow-Up Studies
Abstract

A 21-day-old male infant was admitted with signs of intracranial hypertension. Brain magnetic resonance imaging (MRI) revealed a voluminous mass in the posterior fossa with an intense peripheral enhancement on T1 images with gadolinium. The child was treated secondarily by surgical decompression of the posterior fossa and the lesion was biopsied. The pathological findings indicated infantile hemangioma. Treatment with oral prednisolone was initiated at 3 months, given the lack of tumor involution. Six months after corticotherapy was stopped, repeated MRIs indicated a significant reduction in tumor size and then complete disappearance. Psychometric evaluation was performed at the age of 15 years, showing heterogeneous cognitive disabilities, with verbal abilities superior to nonverbal abilities and delayed motor development. Neurological examination was normal with no focal deficit. To our knowledge, this is the first published case reporting the long-term evolution of a patient with neonatal intracerebral hemangioma. We conclude that psychometric evaluations should be part of the long-term follow-up of children who have had an intracranial capillary hemangioma.

Published
2017
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12. Reversible Cerebral Vasoconstriction Syndrome with Intracranial Hypertension: Should Decompressive Craniectomy Be Considered?

Author

Aude Jaffre, Olivier Fourcade, Jean-François Albucher, Thomas Geeraerts, Nicolas Raposo, Sergio Boetto, Ségolène Mrozek, Anne-Christine Januel, and Laurent Lonjaret

Subjects
Intracerebral hemorrhage, musculoskeletal diseases, business.industry, medicine.medical_treatment, Case Report, Decompressive craniectomy, medicine.disease, Reversible cerebral vasoconstriction syndrome, lcsh:RC346-429, Intracranial hypertension, 03 medical and health sciences, 0302 clinical medicine, Anesthesia, Medicine, 030212 general & internal medicine, Neurology (clinical), business, 030217 neurology & neurosurgery, lcsh:Neurology. Diseases of the nervous system
Abstract

Background: Reversible cerebral vasoconstriction syndrome (RCVS) is a rare cause of intracerebral hemorrhage (ICH) causing intracranial hypertension. Methods: Case report. Results: We report a case of RCVS-related ICH leading to refractory intracranial hypertension. A decompressive craniectomy was performed to control intracranial pressure. We discuss here the management of RCVS with intracranial hypertension. Decompressive craniectomy was preformed to avoid the risky option of high cerebral perfusion pressure management with the risk of bleeding, hemorrhagic complications, and high doses of norepinephrine. Neurological outcome was good. Conclusion: RCVS has a complex pathophysiology and can be very difficult to manage in cases of intracranial hypertension. Decompressive craniectomy should probably be considered.

Published
2017

13. EWSR1-PATZ1 gene fusion may define a new glioneuronal tumor entity

Author

Anne-Isabelle Bertozzi, Emmanuelle Uro-Coste, Claude-Alain Maurage, Sarah Péricart, Sergio Boetto, Yvan Nicaise, Sophie Le Guellec, Camille Franchet, Alix Delrieu, Matthieu Vinchon, David Grand, Frédéric Escudié, David T.W. Jones, Valérie Rigau, Anne Gomez-Brouchet, Aurore Siegfried, Jean-Christophe Sol, Audrey Rousseau, Franck-Emmanuel Roux, Dominique Figarella-Branger, Département de Pathologie [CHU Toulouse], CHU Toulouse [Toulouse], Centre de Recherches en Cancérologie de Toulouse (CRCT), Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Design and Application of Innovative Local Treatments in Glioblastoma (CRCINA-ÉQUIPE 17), Centre de Recherche en Cancérologie et Immunologie Nantes-Angers (CRCINA), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Nantes - UFR de Médecine et des Techniques Médicales (UFR MEDECINE), Université de Nantes (UN)-Université de Nantes (UN)-Centre hospitalier universitaire de Nantes (CHU Nantes)-Centre National de la Recherche Scientifique (CNRS)-Université d'Angers (UA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Nantes - UFR de Médecine et des Techniques Médicales (UFR MEDECINE), Université de Nantes (UN)-Université de Nantes (UN)-Centre hospitalier universitaire de Nantes (CHU Nantes)-Centre National de la Recherche Scientifique (CNRS)-Université d'Angers (UA), Département de Pathologie [CHU Angers], Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM)-PRES Université Nantes Angers Le Mans (UNAM), Département de Pathologie [CHRU Lille], Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Centre de Recherche Jean-Pierre AUBERT Neurosciences et Cancer - U1172 Inserm - U837 (JPArc), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Lille Nord de France (COMUE)-Université de Lille, Institut de pharmacologie et de biologie structurale (IPBS), Centre National de la Recherche Scientifique (CNRS)-Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées, Institut Claudius-Regaud [IUCT, Toulouse], Institut Universitaire du Cancer Toulouse - Oncopôle (IUCT), Département de Neurochirurgie [CHU Toulouse], Département de Neurochirurgie[Lille], Université de Lille, Droit et Santé-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Toulouse Neuro Imaging Center (ToNIC), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut National de la Santé et de la Recherche Médicale (INSERM)-Hôpital Purpan [Toulouse], CHU Toulouse [Toulouse]-CHU Toulouse [Toulouse], Département de Pathologie [Centre Médical Universitaire Montpellier], Centre Médical Universitaire Montpellier - CMUM, Institut des Neurosciences de Montpellier - Déficits sensoriels et moteurs (INM), Université de Montpellier (UM)-Institut National de la Santé et de la Recherche Médicale (INSERM), Département d'Oncopédiatrie [CHU Toulouse], Hopp Children's Cancer Center Heidelberg [Heidelber, Germany] (KITZ), German Cancer Research Center - Deutsches Krebsforschungszentrum [Heidelberg] (DKFZ)-Heidelberg University Hospital [Heidelberg], Division of Pediatric Neurooncology [Heidelberg, Germany], German Cancer Research Center - Deutsches Krebsforschungszentrum [Heidelberg] (DKFZ)-German Cancer Consortium [Heidelberg] (DKTK), Département de Pathologie [CHU Marseille], CHU Marseille, Institut de neurophysiopathologie (INP), Aix Marseille Université (AMU)-Centre National de la Recherche Scientifique (CNRS), D. Jones is supported by funding for the Everest Centre for Paediatric Low- Grade Brain Tumour Research through the Brain Tumour Charity (UK). We are grateful to Karen Silva for her help in handling tumor samples from the different pathological departments. Samples from Marseille were retrieved from the AP-HM tumor bank AC 2017:1786. Samples from Toulouse were retrieved from the CHU de Toulouse tumor bank BB-0033-00014., Service Anatomie et cytologie pathologiques [CHU Toulouse], Pôle Biologie [CHU Toulouse], Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Université d'Angers (UA)-Université de Nantes (UN)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Centre hospitalier universitaire de Nantes (CHU Nantes)-Université d'Angers (UA)-Université de Nantes (UN)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Centre hospitalier universitaire de Nantes (CHU Nantes), Centre de Recherche Jean-Pierre AUBERT Neurosciences et Cancer - U837 (JPArc), Université Lille Nord de France (COMUE)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lille, Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Centre National de la Recherche Scientifique (CNRS), Institut Universitaire du Cancer de Toulouse - Oncopole (IUCT Oncopole - UMR 1037), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service Neurochirurgie [CHU Toulouse], Pôle Neurosciences [CHU Toulouse], Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut National de la Santé et de la Recherche Médicale (INSERM)-Toulouse Mind & Brain Institut (TMBI), Université Toulouse - Jean Jaurès (UT2J)-Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Université Toulouse - Jean Jaurès (UT2J)-Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées, Institut des Neurosciences de Montpellier (INM), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Sercice Hématologie, immunologie et oncologie pédiatrique [CHU Toulouse], Pôle Enfants [CHU Toulouse], Bernardo, Elizabeth, Université de Toulouse (UT)-Université de Toulouse (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Université de Toulouse (UT)-Université de Toulouse (UT)-Centre National de la Recherche Scientifique (CNRS), Université de Toulouse (UT)-Université de Toulouse (UT)-Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université de Toulouse (UT)-Université de Toulouse (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Toulouse Mind & Brain Institut (TMBI), Université Toulouse - Jean Jaurès (UT2J), Université de Toulouse (UT)-Université de Toulouse (UT)-Université Toulouse III - Paul Sabatier (UT3), Université de Toulouse (UT)-Université Toulouse - Jean Jaurès (UT2J), Université de Toulouse (UT)-Université Toulouse III - Paul Sabatier (UT3), Université de Toulouse (UT), Design and Application of Innovative Local Treatments in Glioblastoma (CRCINA - Département NOHMAD - Equipe 17), Centre de recherche de Cancérologie et d'Immunologie / Nantes - Angers (CRCINA), Université d'Angers (UA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Centre hospitalier universitaire de Nantes (CHU Nantes)-Université de Nantes - UFR de Médecine et des Techniques Médicales (UFR MEDECINE), Université de Nantes (UN)-Université de Nantes (UN)-Université d'Angers (UA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Centre hospitalier universitaire de Nantes (CHU Nantes)-Université de Nantes - UFR de Médecine et des Techniques Médicales (UFR MEDECINE), Université de Nantes (UN)-Université de Nantes (UN), Centre de recherche Jean-Pierre Aubert-Neurosciences et Cancer, Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lille, Droit et Santé, Institut pour la Recherche sur le Cancer de Lille (U837 INSERM - IRCL), Institut pour la recherche sur le cancer de Lille [Lille] (IRCL)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre de Recherche Jean-Pierre AUBERT - Neurosciences et Cancer -JPArc [Lille], Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Hôpital Purpan [Toulouse], CHU Toulouse [Toulouse]-CHU Toulouse [Toulouse]-Institut National de la Santé et de la Recherche Médicale (INSERM), Hopp Children's Cancer Center at the NCT Heidelberg - KiTZ [Heidelber, Germany]g, Centre de Recherche en Cancérologie de Toulouse ( CRCT ), Université Paul Sabatier - Toulouse 3 ( UPS ) -CHU Toulouse [Toulouse]-Hôpital Purpan [Toulouse]-Institut National de la Santé et de la Recherche Médicale ( INSERM ), Design and Application of Innovative Local Treatments in Glioblastoma ( CRCINA - Département NOHMAD - Equipe 17 ), Centre de recherche de Cancérologie et d'Immunologie / Nantes - Angers ( CRCINA ), Université d'Angers ( UA ) -Université de Nantes ( UN ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Centre National de la Recherche Scientifique ( CNRS ) -Institut de Recherche en Santé de l'Université de Nantes ( IRS-UN ) -Centre hospitalier universitaire de Nantes ( CHU Nantes ) -Université d'Angers ( UA ) -Université de Nantes ( UN ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Centre National de la Recherche Scientifique ( CNRS ) -Institut de Recherche en Santé de l'Université de Nantes ( IRS-UN ) -Centre hospitalier universitaire de Nantes ( CHU Nantes ), Centre hospitalier universitaire d'Angers ( CHU Angers ), Centre Hospitalier Régional Universitaire [Lille] ( CHRU Lille ), Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Université de Lille, Droit et Santé, Institut pour la Recherche sur le Cancer de Lille ( U837 INSERM - IRCL ), Institut pour la recherche sur le cancer de Lille [Lille] ( IRCL ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Centre de Recherche Jean-Pierre AUBERT - Neurosciences et Cancer -JPArc [Lille], Institut de pharmacologie et de biologie structurale ( IPBS ), Université Paul Sabatier - Toulouse 3 ( UPS ) -Centre National de la Recherche Scientifique ( CNRS ), Institut Universitaire du Cancer Toulouse - Oncopôle ( IUCT ), Centre Hospitalier Universitaire de Toulouse - CHU Toulouse (FRANCE), Université de Lille, Droit et Santé-Centre Hospitalier Régional Universitaire [Lille] ( CHRU Lille ), Toulouse Neuro Imaging Center ( ToNIC ), Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Hôpital Purpan - Centre Hospitalier Universitaire (CHU) de Toulouse-Université Toulouse III - Paul Sabatier, Institut des Neurosciences de Montpellier - Déficits sensoriels et moteurs ( INM ), Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Université de Montpellier ( UM ), German Cancer Research Center ( DKFZ ) -German Cancer Consortium - DKTK [Heidelberg, Germany], Institut de neurophysiopathologie ( INP ), and Aix Marseille Université ( AMU ) -Centre National de la Recherche Scientifique ( CNRS )

Subjects
0301 basic medicine, Adult, Male, DNA Copy Number Variations, Kruppel-Like Transcription Factors, Locus (genetics), [SDV.CAN]Life Sciences [q-bio]/Cancer, Biology, [ SDV.CAN ] Life Sciences [q-bio]/Cancer, Pathology and Forensic Medicine, Ganglioglioma, Fusion gene, 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, [SDV.CAN] Life Sciences [q-bio]/Cancer, Glioma, medicine, Biomarkers, Tumor, Humans, Copy-number variation, Child, In Situ Hybridization, Fluorescence, Research Articles, Sanger sequencing, Brain Neoplasms, General Neuroscience, Methylation, DNA Methylation, medicine.disease, Neoplasms, Neuroepithelial, 3. Good health, Repressor Proteins, 030104 developmental biology, Fusion transcript, Cancer research, symbols, Female, Neurology (clinical), Gene Fusion, RNA-Binding Protein EWS, 030217 neurology & neurosurgery
Abstract

International audience; We investigated the challenging diagnostic case of a ventricular cystic glioneuronal tumor with papillary features, by RNA sequencing using the Illumina TruSight RNA Fusion panel. We did not retrieve the SLC44A1-PRKCA fusion gene specific for papillary glioneuronal tumor, but an EWSR1-PATZ1 fusion transcript. RT-PCR followed by Sanger sequencing confirmed the EWSR1-PATZ1 fusion. It matched with canonic EWSR1 fusion oncogene, juxtaposing the entire N terminal transcriptional activation domain of EWSR1 gene and the C terminal DNA binding domain of a transcription factor gene, PATZ1. PATZ1 protein belongs to the BTB-ZF (broad-complex, tramtrack and bric-à-brac -zinc finger) family. It directly regulates Pou5f1 and Nanog and is essential to maintaining stemness by inhibiting neural differentiation. EWSR1-PATZ1 fusion is a rare event in tumors: it was only reported in six round cell sarcomas and in three gliomas of three exclusively molecular studies. The first reported glioma was a BRAF[V600E] negative ganglioglioma, the second a BRAF[V600E] negative glioneuronal tumor, not otherwise specified, and the third, very recently reported, a high grade glioma, not otherwise specified. In our study, forty BRAF[V600E] negative gangliogliomas were screened by FISH using EWSR1 break-apart probes. We performed methylation profiling for the index case and for seven out of the ten FISH positive cases. The index case clustered apart from other pediatric low grade glioneuronal entities, and specifically from the well-defined ganglioglioma methylation group. An additional pediatric intraventricular ganglioglioma clustered slightly more closely with ganglioglioma, but showed differences from the main ganglioglioma group and similarities with the index case. Both cases harbored copy number variations at the PATZ1 locus. EWSR1-PATZ1 gene fusion might define a new type of glioneuronal tumors, distinct from gangliogliomas.

Published
2019
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14. ETMR-like infantile cerebellar embryonal tumors in the extended morphologic spectrum of DICER1-related tumors

Author

Marcel Kool, Franck Bourdeaut, Valérie Rigau, Sander Lambo, Isabelle Oliver-Petit, Marie-Bernadette Delisle, Lisa Golmard, Thomas Roujeau, Gilles Palenzuela, Badreddine Mohand-Oumoussa, Emmanuelle Uro-Coste, Frédérique Savagner, Dominique Figarella-Branger, Maud Blanluet, Isabelle Coupier, Julien Masliah-Planchon, Arnault Tauziède-Espariat, Sophie Julia, Aurore Siegfried, Sergio Boetto, Marion Gambart, Anne-Isabelle Bertozzi, Centre de Recherches en Cancérologie de Toulouse (CRCT), Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Unité de génétique et biologie des cancers (U830), Université Paris Descartes - Paris 5 (UPD5)-Institut Curie [Paris]-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut Curie [Paris], German Cancer Consortium [Heidelberg] (DKTK), German Cancer Research Center - Deutsches Krebsforschungszentrum [Heidelberg] (DKFZ), Service de Neurochirurgie [Montpellier], Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-CHU Gui de Chauliac [Montpellier], Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Institut des Maladies Métaboliques et Cardiovasculaires (I2MC), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut National de la Santé et de la Recherche Médicale (INSERM), Plateforme Post-génomique de la Pitié-Salpêtrière (P3S), UMS omique (OMIQUE), Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Sorbonne Université (SU), Centre Hospitalier Sainte Anne [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Institut de neurophysiopathologie (INP), Aix Marseille Université (AMU)-Centre National de la Recherche Scientifique (CNRS), Assistance Publique - Hôpitaux de Marseille (APHM), Service d'Anatomo-Cyto-Pathologie et de NeuroPathologie [Hôpital de la Timone - APHM] (ACPNP), Aix Marseille Université (AMU)- Hôpital de la Timone [CHU - APHM] (TIMONE), Aix Marseille Université (AMU), Département de neurologie [Montpellier], Université Montpellier 1 (UM1)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Hôpital Gui de Chauliac [Montpellier]-Université de Montpellier (UM), Institut des Neurosciences de Montpellier (INM), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), figarella-branger, dominique, Institut Curie [Paris]-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées, Assistance Publique-Hôpitaux de Marseille (AP-HM), Institut des Neurosciences de Montpellier - Déficits sensoriels et moteurs (INM), Centre Hospitalier Universitaire de Toulouse, Université Paris Descartes - Paris 5 (UPD5)-Institut Curie-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut Curie, Université de Toulouse (UT)-Université de Toulouse (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Service de Neurochirurgie [CHRU Montpellier], Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Hôpital Gui de Chauliac [CHU Montpellier], Université de Toulouse (UT)-Université de Toulouse (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université Montpellier 1 (UM1)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Hôpital Gui de Chauliac [CHU Montpellier], and Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Université de Montpellier (UM)

Subjects
Ribonuclease III, Pathology, medicine.medical_specialty, business.industry, [SDV]Life Sciences [q-bio], Brain, Infant, Neoplasms, Germ Cell and Embryonal, Pathology and Forensic Medicine, DEAD-box RNA Helicases, [SDV] Life Sciences [q-bio], 03 medical and health sciences, Cellular and Molecular Neuroscience, Embryonal tumors, 0302 clinical medicine, 030220 oncology & carcinogenesis, Mutation, medicine, Humans, Female, Neurology (clinical), business, 030217 neurology & neurosurgery, ComputingMilieux_MISCELLANEOUS
Abstract

International audience

Published
2018
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15. Monitoring Criteria of Intracranial Lesions in Children Post Mild or Moderate Head Trauma

Author

Annick Sevely, Sergio Boetto, Yves Chaix, Jean-Christophe Sol, Coralie Jacquet, and Emmanuel Cheuret

Subjects
Male, medicine.medical_specialty, Pediatrics, Exacerbation, Vomiting, Traumatology, Severity of Illness Index, Head trauma, 03 medical and health sciences, 0302 clinical medicine, Hematoma, Seizures, Severity of illness, Outcome Assessment, Health Care, medicine, Cerebral Hemorrhage, Traumatic, Craniocerebral Trauma, Humans, Child, Retrospective Studies, business.industry, Head injury, Infant, 030208 emergency & critical care medicine, Retrospective cohort study, General Medicine, medicine.disease, Child, Preschool, Pediatrics, Perinatology and Child Health, Disease Progression, Female, Neurology (clinical), Neurosurgery, business, 030217 neurology & neurosurgery
Abstract

Head injury is the most common cause of child traumatology. However, there exist no treatment guidelines in children having intracranial lesions due to minor or moderate head trauma. There is little knowledge about monitoring, clinical exacerbation risk factors, or optimal duration of hospitalization. The aim of this retrospective study is to find predictive factors in the clinical course of non-severe head trauma in children, and thus to determine an optimal management strategy. Poor clinical progress was observed in only 4 out of 113 children. When there are no clinical signs and no eating disorders, an earlier discharge is entirely appropriate. Nevertheless, persistent clinical symptoms including headache, vomiting, and late onset seizure, especially in conjunction with hemodynamic disorders such as bradycardia, present a risk of emergency neurosurgery or neurological deterioration. Special attention should be paid to extradural hematoma (EDH) of more than 10 mm, which can have the most severe consequences. Clinical aggravation does not necessarily correlate with a change in follow-up imaging. Conversely, an apparent increase in the brain lesion on the scan is not consistently linked to a pejorative outcome.

Published
2018

16. Pediatric Localized Intracranial Ependymomas: A Multicenter Analysis of the Société Française de lutte contre les Cancers de l'Enfant (SFCE) from 2000 to 2013

Author

Christian Carrie, Christine Kerr, Didier Frappaz, J. Leseur, Claire Alapetite, Aymeri Huchet, Charlotte Demoor-Goldschmidt, Jean-Louis Habrand, Line Claude, Stéphanie Bolle, Elisabeth Le Prisé, Tan Dat Nguyen, Annick Sevely, Xavier Muracciole, Anne Ducassou, Bernard Coche-Dequeant, Léonor Chaltiel, Valérie Bernier-Chastagner, F. Tensaouti, Sergio Boetto, Stéphane Supiot, Anne-Isabelle Bertozzi, Anne Laprie, Laetitia Padovani, Gilles Truc, CRLCC Institut Claudius Regaud, Service de Radiothérapie, Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE), Laboratoire de Génétique Cellulaire (LGC), Ecole Nationale Vétérinaire de Toulouse (ENVT), Institut National Polytechnique (Toulouse) (Toulouse INP), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut National Polytechnique (Toulouse) (Toulouse INP), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut National de la Recherche Agronomique (INRA), Centre Régional de Lutte contre le Cancer François Baclesse (CRLC François Baclesse ), Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN), Aliments Bioprocédés Toxicologie Environnements (ABTE), Université de Caen Normandie (UNICAEN), Normandie Université (NU)-Normandie Université (NU)-Université de Rouen Normandie (UNIROUEN), Normandie Université (NU), Centre Léon Bérard [Lyon], Département d'oncologie en radiothérapie [CHU de la Timone], Assistance Publique - Hôpitaux de Marseille (APHM), Centre Régional de Lutte Contre le Cancer Oscar Lambret, CRLCC René Gauducheau, Institut de Cancérologie de Lorraine - Alexis Vautrin (ICL), CHU Bordeaux [Bordeaux], Laboratoire Traitement du Signal et de l'Image (LTSI), Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Institut National de la Santé et de la Recherche Médicale (INSERM), CRLCC Eugène Marquis (CRLCC), Département de radiothérapie, CRLCC Val d'Aurelle - Paul Lamarque, Centre Régional de Lutte contre le cancer - Centre Georges-François Leclerc (CRLCC - CGFL), Institut Jean Godinot, CRLCC Jean Godinot, Hôpital des Enfants, CHU Toulouse [Toulouse], Département de Neurochirurgie [CHU Toulouse], Imagerie cérébrale et handicaps neurologiques, Institut des sciences du cerveau de Toulouse. (ISCT), Université Toulouse - Jean Jaurès (UT2J)-Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-CHU Toulouse [Toulouse]-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Toulouse - Jean Jaurès (UT2J)-Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-CHU Toulouse [Toulouse]-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Médical, Institut Claudius Regaud, CHU Marseille, Institut National de la Recherche Agronomique (INRA)-Ecole Nationale Vétérinaire de Toulouse (ENVT), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées, Institut Gustave Roussy (IGR), Centre Régional de Lutte contre le Cancer François Baclesse [Caen] (UNICANCER/CRLC), Normandie Université (NU)-UNICANCER-Tumorothèque de Caen Basse-Normandie (TCBN), Centre Régional de Lutte contre le Cancer Oscar Lambret [Lille] (UNICANCER/Lille), Université Lille Nord de France (COMUE)-UNICANCER, Institut Curie [Paris], Institut de Cancérologie de Lorraine - Alexis Vautrin [Nancy] (UNICANCER/ICL), UNICANCER, Centre Régional de Lutte contre le cancer Georges-François Leclerc [Dijon] (UNICANCER/CRLCC-CGFL), Institut Jean Godinot [Reims], Toulouse Neuro Imaging Center (ToNIC), Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut National de la Santé et de la Recherche Médicale (INSERM)-Hôpital Purpan [Toulouse], CHU Toulouse [Toulouse]-CHU Toulouse [Toulouse], Université de Toulouse (UT)-Université de Toulouse (UT)-Institut National Polytechnique (Toulouse) (Toulouse INP), Université de Toulouse (UT)-Université de Toulouse (UT), Université de Lille-UNICANCER, Université de Rennes (UR)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Université de Toulouse (UT)-Université de Toulouse (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Toulouse Mind & Brain Institut (TMBI), Université Toulouse - Jean Jaurès (UT2J), Université de Toulouse (UT)-Université de Toulouse (UT)-Université Toulouse III - Paul Sabatier (UT3), Université de Toulouse (UT)-Université Toulouse - Jean Jaurès (UT2J), Université de Toulouse (UT)-Université Toulouse III - Paul Sabatier (UT3), Université de Toulouse (UT), and UNICANCER-Tumorothèque de Caen Basse-Normandie (TCBN)-Normandie Université (NU)

Subjects
Male, Cancer Research, Prognostic factor, medicine.medical_specialty, Adolescent, medicine.medical_treatment, [SDV]Life Sciences [q-bio], [SDV.CAN]Life Sciences [q-bio]/Cancer, Extent of resection, Disease-Free Survival, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Internal medicine, Medicine, Humans, Radiology, Nuclear Medicine and imaging, Cumulative incidence, Young adult, Child, ComputingMilieux_MISCELLANEOUS, Chemotherapy, Radiation, business.industry, Brain Neoplasms, Medical record, Infant, Radiotherapy Dosage, Prognosis, Confidence interval, 3. Good health, Oncology, Multicenter study, Ependymoma, 030220 oncology & carcinogenesis, Child, Preschool, Female, business, 030217 neurology & neurosurgery
Abstract

International audience; Purpose - The objective of this study was to analyze survival and prognostic factors for children, adolescents, and young adults treated with postoperative radiation therapy (RT) for intracranial ependymoma. Methods and materials - Between 2000 and 2013, 202 patients aged ≤25 years were treated in the 13 main French pediatric RT reference centers. Their medical records were reviewed for information, treatments received, and survival rates. All children had received postoperative RT- conformal, intensity modulated, or proton beam. In 2009, the prescribed standard dose in France rose from 54 Gy to 59.4 Gy. Results - Median follow-up was 53.8 months (95% confidence interval [CI] 47-63.5). Median age at RT was 5 years (range 1-22), and 32% of the children treated were aged 54 Gy, and 71% received chemotherapy. Of the 84 relapses, 75% were local. The cumulative incidence of local relapse was 24.4% (95% CI 18.2-31.2) at 3 years and 31.3% (95% CI 24-38.9) at 5 years. The 5-year disease-free survival (DFS) and overall survival rates were 50.4% (95% CI 42.2-58) and 71.4% (95% CI 63.1-78.2). Tumor grade was the only prognostic factor for local relapse and DFS. Tumor grade, age, and extent of resection were independent prognostic factors for overall survival. Conclusions - We confirmed several clinical and tumoral prognostic factors in a large French multicenter study. DFS for intracranial ependymoma remains low, and new biological and imaging markers are needed to distinguish among different subtypes, adapt treatments, and improve survival.

Published
2018
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17. Endoscopic third ventriculostomy: outcome analysis in 368 procedures

Author

Sergio Boetto, Valérie Lauwers-Cances, Oumar Sacko, Martin Dupuy, and Franck-Emmanuel Roux

Subjects
Ventriculostomy, medicine.medical_specialty, medicine.diagnostic_test, business.industry, medicine.medical_treatment, Endoscopic third ventriculostomy, Retrospective cohort study, General Medicine, medicine.disease, Surgery, Hydrocephalus, Endoscopy, Central nervous system disease, Stenosis, Aqueductal stenosis, Medicine, business
Abstract

Object Although endoscopic third ventriculostomy (ETV) has been accepted as a procedure of choice for the treatment of obstructive hydrocephalus, the outcome of this treatment remains controversial with regard to age, cause, and long-term follow-up results. The goal of this study was to assess the risk of failure associated with these factors in a retrospective cohort study. Methods Between 1999 and 2007, 368 ETVs were performed in 350 patients (165 patients < 18 years of age) with hydrocephalus at the University Hospital of Toulouse. Failure of ETV was defined as cases requiring any subsequent surgical procedure for CSF diversion or death related to hydrocephalus management. Results Tumors (53%), primary aqueductal stenosis (18%), and intracranial hemorrhage (13%) were the most common causes of hydrocephalus. The median follow-up period was 47 months (range 6–106 months), and the overall success rate was 68.5% (252 of the 368 procedures). Patients < 6 months of age had a 5-fold increased risk of ETV failure than older patients (adjusted hazard ratio [HRa] 5.0; 95% CI 2.4–10.4; p < 0.001). Hemorrhage-related (HRa 4.0; 95% CI 1.9–8.5; p < 0.001) and idiopathic chronic hydrocephalus (HRa 6.3, 95% CI 2.5–15.0, p < 0.001) had a higher risk of failure than other causes. Most failures (97%) occurred within 2 months of the initial procedure. The overall morbidity rate was 10%, although most complications were minor. Finally, the introduction of ETV in the authors' department reduced the number of shunt insertions and hospital admissions for shunt failures by half and was a source of cost savings. Conclusions Endoscopic third ventriculostomy is a safe procedure and an effective treatment option for hydrocephalus. Factors indicating potential poor ETV outcome seem to be very young children and hemorrhage-related and chronic hydrocephalus in adults.

Published
2010
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18. La protonthérapie : une nouvelle option thérapeutique pour la prise en charge post-chirurgicale d’un adénome hypophysaire gonadotrope agressif de l’enfant : à propos d’un cas

Author

Annick Sevely, Claire Alapetite, Sergio Boetto, Philippe Caron, Anne-Isabelle Bertozzi, and I. Oliver Petit

Subjects
Endocrinology, Endocrinology, Diabetes and Metabolism, General Medicine
Abstract

Introduction L’adenome hypophysaire gonadotrope est tres rare chez l’enfant avec comme option therapeutique la chirurgie et la radiotherapie. La protontherapie, aux proprietes balistiques ultra precises, permet une radiotherapie focalisee, meme des lesions profondes avec peu d’atteinte des tissus traverses et environnants. Observation Garcon de 10 ans, sans antecedent, presentant une baisse de l’acuite visuelle soudaine avec hemianopsie bilaterale. Examen normal (P1G1). Sur l’IRM hypophysaire : volumineuse tumeur (3,5 cm) intra et suprasellaire, avec compression du chiasma et envahissement du sinus caverneux droit. L’exploration hormonale met en evidence un deficit partiel GH/TSH alors que les concentrations de prolactine, FSH et sous-unite α sont normales ; absence de mutation germinale des genes NEM1, AIP, GNAS. Chirurgie initiale de decompression puis 9 mois plus tard resection partielle pour rechute visuelle et progression tumorale a l’IRM. L’etude histologique objective un adenome gonadotrope [bFSH (4–20 %), sous unite α (40 %)] et agressif [P53 (3 %), MIB1 (6 %)]. Compte tenu du jeune âge de l’enfant, une radiotherapie par protontherapie (54 Gy) est proposee. Avec un recul de 24 mois, aucune progression tumorale est observee sur la surveillance IRM ; recuperation visuelle complete et pas d’autre deficit hypophysaire. Un traitement par GH a ete initie 1 an apres la fin de la protontherapie avec un excellent rattrapage statural. Discussion L’adenome hypophysaire gonadotrope agressif est une tumeur exceptionnelle chez l’enfant, dont la prise en charge est difficile. La protontherapie apparait une option therapeutique en postoperatoire en cas de recidive pour controler la croissance tumorale et limiter les effets secondaires iatrogenes.

Published
2016
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19. Third Ventriculocisternostomy for Shunt Failure

Author

Sergio Boetto, Virakpagna Chhun, Oumar Sacko, Franck-Emmanuel Roux, Département de Neurochirurgie [CHU Toulouse], CHU Toulouse [Toulouse], Imagerie cérébrale et handicaps neurologiques (ICHN), Institut des sciences du cerveau de Toulouse. (ISCT), Université Toulouse - Jean Jaurès (UT2J)-Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-CHU Toulouse [Toulouse]-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Toulouse - Jean Jaurès (UT2J)-Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-CHU Toulouse [Toulouse]-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre de recherche cerveau et cognition (CERCO), and Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-CHU Toulouse [Toulouse]-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Centre National de la Recherche Scientifique (CNRS)

Subjects
Adult, Male, Reoperation, medicine.medical_specialty, Adolescent, Statistical difference, Neurosurgical Procedures, Ventriculostomy, Pressure range, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Cerebrospinal fluid, Postoperative Complications, medicine, Humans, Child, Intraoperative Complications, Aged, Third Ventricle, business.industry, [SCCO.NEUR]Cognitive science/Neuroscience, Endoscopic third ventriculostomy, Infant, Endoscopy, Middle Aged, medicine.disease, Prognosis, Cerebrospinal Fluid Shunts, 3. Good health, Hydrocephalus, Surgery, Shunting, Treatment Outcome, Aqueductal stenosis, 030220 oncology & carcinogenesis, Child, Preschool, Equipment Failure, Female, Neurology (clinical), business, 030217 neurology & neurosurgery, Shunt (electrical)
Abstract

Background Our objective was to analyze the relevance, potential prognostic factors, and complications of endoscopic third ventriculostomy (ETV) in patients with shunt failures. Methods Among 721 ETVs performed between 1999 and 2013, we studied 53 patients with shunts (31 men, 21 less than 18 years of age) who had an ETV performed for shunt failures as the result of various causes. We included all initial causes of hydrocephalus except adult chronic (i.e., “normal pressure”) and pediatric communicant hydrocephalus. The mean duration between initial shunting for hydrocephalus and the ETV procedure was more than 11 years (137 months; range, 1 month to 34 years). Successful ETV procedure was defined as clinical improvement and shunt independence extending until the last follow-up visit. Results The success rate of the ETV procedure was 70% (37 of the 53 cases) with a mean follow-up of 51 months (from 3 to 157 months) and was not related to the age of the patient (P = 0.922), to the cause of hydrocephalus (P = 0.622), or to the number of shunt failures (P = 0.459). We also found no statistical difference (P = 0.343) between patients whose shunt had been in place for less than 5 years and those shunted more than 5 years. The presence of an infected shunt was not predictive of ETV failure (P = 0.395). No significant intraoperative or postoperative complications were noted. Conclusion This study confirms that ETV should be considered as the first therapeutic option before shunt revision in cases of initial obstructive hydrocephalus.

Published
2014
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21. Brainstem hemorrhage following decompressive craniectomy

Author

Maxime Ros, Olivier Fourcade, Sergio Boetto, Thomas Geeraerts, and Laurent Lonjaret

Subjects
Male, medicine.medical_specialty, Brainstem hemorrhage, Decompression, medicine.medical_treatment, Brain ct, Young Adult, Hematoma, Postoperative Complications, Physiology (medical), medicine, Humans, Glasgow Coma Scale, business.industry, Head injury, Accidents, Traffic, General Medicine, medicine.disease, Decompression, Surgical, Surgery, Road traffic accident, Hematoma, Subdural, Neurology, Anesthesia, Brain Stem Hemorrhage, Traumatic, Decompressive craniectomy, Neurology (clinical), Intracranial Hypertension, business, Tomography, X-Ray Computed, Craniotomy, Brain Stem
Abstract

Decompressive craniectomy (DC) is used for the management of refractory raised intracranial pressure, but the impact of DC on surgical outcome is still controversial. We report a 21-year-old man admitted to our hospital after a road traffic accident. The brain CT scan revealed a left hemispheric acute subdural hematoma. After DC, he developed a brainstem hemorrhage. Recovery was, however, good.

Published
2011

22. Endoscopic third ventriculostomy: outcome analysis in 368 procedures

Author

Oumar, Sacko, Sergio, Boetto, Valérie, Lauwers-Cances, Martin, Dupuy, and Franck-Emmanuel, Roux

Subjects
Adult, Aged, 80 and over, Male, Adolescent, Age Factors, Infant, Newborn, Infant, Endoscopy, Middle Aged, Ventriculostomy, Cohort Studies, Young Adult, Postoperative Complications, Treatment Outcome, Risk Factors, Child, Preschool, Humans, Female, Treatment Failure, Child, Aged, Follow-Up Studies, Hydrocephalus, Proportional Hazards Models, Third Ventricle
Abstract

Although endoscopic third ventriculostomy (ETV) has been accepted as a procedure of choice for the treatment of obstructive hydrocephalus, the outcome of this treatment remains controversial with regard to age, cause, and long-term follow-up results. The goal of this study was to assess the risk of failure associated with these factors in a retrospective cohort study.Between 1999 and 2007, 368 ETVs were performed in 350 patients (165 patients18 years of age) with hydrocephalus at the University Hospital of Toulouse. Failure of ETV was defined as cases requiring any subsequent surgical procedure for CSF diversion or death related to hydrocephalus management.Tumors (53%), primary aqueductal stenosis (18%), and intracranial hemorrhage (13%) were the most common causes of hydrocephalus. The median follow-up period was 47 months (range 6-106 months), and the overall success rate was 68.5% (252 of the 368 procedures). Patients6 months of age had a 5-fold increased risk of ETV failure than older patients (adjusted hazard ratio [HRa] 5.0; 95% CI 2.4-10.4; p0.001). Hemorrhage-related (HRa 4.0; 95% CI 1.9-8.5; p0.001) and idiopathic chronic hydrocephalus (HRa 6.3, 95% CI 2.5-15.0, p0.001) had a higher risk of failure than other causes. Most failures (97%) occurred within 2 months of the initial procedure. The overall morbidity rate was 10%, although most complications were minor. Finally, the introduction of ETV in the authors' department reduced the number of shunt insertions and hospital admissions for shunt failures by half and was a source of cost savings.Endoscopic third ventriculostomy is a safe procedure and an effective treatment option for hydrocephalus. Factors indicating potential poor ETV outcome seem to be very young children and hemorrhage-related and chronic hydrocephalus in adults.

Published
2010

23. Outcome in 53 patients with spinal cord cavernomas

Author

Pierre, Labauge, Stéphane, Bouly, Fabrice, Parker, Sophie, Gallas, Evelyne, Emery, Hugues, Loiseau, Jean Paul, Lejeune, Michel, Lonjon, François, Proust, Sergio, Boetto, Sophie, Coulbois, Jean, Auque, Jacques, Boulliat, and Jacques, Bouillat

Subjects
Adult, Male, medicine.medical_specialty, Hemangioma, Cavernous, Central Nervous System, Adolescent, Population, Hemorrhage, Asymptomatic, Neurosurgical Procedures, Spinal cord compression, medicine, Humans, Spinal Cord Neoplasms, Age of Onset, education, Child, Aged, Retrospective Studies, Aged, 80 and over, education.field_of_study, medicine.diagnostic_test, business.industry, Retrospective cohort study, Magnetic resonance imaging, Middle Aged, medicine.disease, Spinal cord, Decompression, Surgical, Prognosis, Magnetic Resonance Imaging, Surgery, Radiography, medicine.anatomical_structure, Early Diagnosis, Treatment Outcome, Spinal Cord, Female, Neurology (clinical), Neurosurgery, medicine.symptom, Age of onset, business, Spinal Canal, Spinal Cord Compression
Abstract

Background Prevalence of cerebral cavernomas in the general population is close to 0.5%. In contrast, SCCs are rare. The aim of this study was to determine the outcome of SCC in a large sample of patients. Methods Clinical and neuroradiologic findings were retrospectively collected in a multicentric study. Diagnosis was based on pathologic criteria or MR findings. Results Fifty-three patients were included (26 males, 27 females). Mean age at onset of symptoms was 40.2 years (11-80 years). Initial symptoms were progressive (32) or acute myelopathy (20). One case was asymptomatic. Triggering factors were found in 14 of the patients (26%). Clinical symptoms were related to spinal cord compression (27) and hemorrhage (22). Spinal cord cavernoma was thoracic in 41 cases and cervical in 12. Mean size of the lesions was 16.3 mm (3-54 mm). In the 40 surgical patients, long-term follow-up was available in 37 cases for a mean time of 7.3 years (0.4-50 years). During the follow-up period, 20 patients improved, 6 remained on their preoperative baseline, and 11 got worse. Surgical improvement was more often found in posterior rather than anterior location. Using McCormick classification, 22 patients were autonomous (grades 1-2), 12 handicapped (grade 3), and 3 bedridden (grade 4) at the end of the follow-up. Conclusions This study has defined clinical and MR patterns of spinal cavernomas. Surgery lastingly improved more than half of the patients.

Published
2007

24. Writing, calculating, and finger recognition in the region of the angular gyrus: a cortical stimulation study of Gerstmann syndrome

Author

Sergio Boetto, François Chollet, Oumar Sacko, Franck-Emmanuel Roux, and M. Tremoulet

Subjects
Male, Gerstmann syndrome, Gerstmann Syndrome, Electric Stimulation Therapy, Intraparietal sulcus, Severity of Illness Index, Angular gyrus, Postoperative Complications, Supramarginal gyrus, Parietal Lobe, medicine, Humans, Prospective Studies, Brain Mapping, business.industry, Brain Neoplasms, Recognition, Psychology, Middle Aged, medicine.disease, Magnetic Resonance Imaging, Temporal Lobe, Frontal Lobe, Finger agnosia, Agraphia, Agnosia, Acalculia, Female, Occipital Lobe, medicine.symptom, Psychomotor Disorders, business, Cognition Disorders, Neuroscience, Mathematics
Abstract

Object. In an attempt to gain a better understanding of the cerebral functions represented in the angular gyrus and to spare them during surgery, the authors studied patients with brain tumors located close to the angular gyrus and mapped cortical sites by using electrostimulation. Methods. Before undergoing tumor removal, six right-handed patients (five with left and one with right hemisphere tumors) were studied using cortical mapping with the aid of calculating, writing, finger-recognition, and color-naming tasks in addition to standard reading and object-naming tasks (for a total of 36 brain mapping studies). Strict conditions of functional site validation were applied to include only those cortical sites that produced repetitive interferences in the function tested. Preoperatively, four of the patients exhibited discrete symptoms related to Gerstmann syndrome while performing very specific tasks, whereas the other two patients presented with no symptoms of the syndrome. No patient had significant language or apraxic deficits. Distinct or shared cortical sites producing interferences in calculating, finger recognition, and writing were repeatedly found in the angular gyrus. Object- or color-naming sites and reading-interference sites were also found in or close to the angular gyrus; although frequently demonstrated, these latter results were variable and unpredictable in the group of patients studied. Finger agnosia and acalculia sites were also found elsewhere, such as in the supramarginal gyrus or close to the intraparietal sulcus. Mechanisms involved in acalculia, agraphia, or finger agnosia (either complete interferences or hesitations) during stimulation were various, from an aphasia-like form (for instance, the patient did not understand the numbers or words given for calculating or writing tasks) to an apparently pure interference in the function tested (patients understood the numbers, but were unable to perform a simple addition). Conclusions. Symptoms of Gerstmann syndrome can be found during direct brain mapping in the angular gyrus region. In this series of patients, sites producing interferences in writing, calculating, and finger recognition were demonstrated in the angular gyrus, which may or may not have been associated with object-naming, color-naming, or reading sites.

Published
2003

26. Posterolateral approach and anterior spinal canal recalibration in severe spinal injury affecting T-12, L-1: a study of seven cases

Author

Sergio Boetto, Yves Lazorthes, and Jacques Richaud

Subjects
Adult, Male, medicine.medical_specialty, Spinal stenosis, medicine.medical_treatment, Arthrodesis, Spinal canal stenosis, Spinal Stenosis, medicine, Humans, Spinal canal, Impaction, business.industry, Lumbosacral Region, Thorax, Ablation, medicine.disease, Surgery, Transplantation, medicine.anatomical_structure, Evaluation Studies as Topic, Spinal Injuries, Female, Neurology (clinical), business, Tomography, X-Ray Computed, Posterolateral approach, Spinal Canal
Abstract

The authors present seven cases of spinal trauma at the T-12-L-1 level with severe spinal canal stenosis secondary to compressive, anterior discocorporeal lesions. Associated neurological disorders were of varying severity. Six cases were investigated by computed tomography, which enabled the degree of thoracolumbar spinal canal stenosis to be determined. In all cases, the surgical procedure involved rectification of spinal deformity, with an initial unilateral posterolateral approach permitting anterior spinal canal recalibration, either by impaction of protrusive fragments or ablation of ejected disc fragments. The stabilization was in all cases achieved by complimentary bilateral plates using Roy-Camille material, associated with posterolateral arthrodesis by grafting with reconstruction of the articulopedicular structure. The functional spinal result was excellent in all cases, and recalibration was verified by tomography. In those cases showing neurological deficiency, good and early recovery was attributable to the suppression of spinal canal stenosis. The application of this posterolateral approach for severe lesions of the thoracolumbar junction seems to represent, in all cases of recent lesions, an alternative to the anterior or combined methods, which present widely recognized difficulties at the thoracoabdominal junction.

Published
1986

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