Article
Oncology
Hayato Suzuki, Takahiro Ono, Souichi Koyota, Masataka Takahashi, Tamotsu Sugai, Hiroshi Nanjo, Hiroaki Shimizu
Summary: This study investigated the clinical, histopathological, and molecular characteristics of IDHwt indolent diffuse gliomas. The results showed that these tumors lacked the molecular features of glioblastoma except for the PI3K/MAPK pathway alteration. Compared to the reference cohort, the frequency of RB pathway alterations and EGFR amplification was significantly lower in the iDGwt cases, and overall survival was significantly longer.
JOURNAL OF NEURO-ONCOLOGY
(2022)
Article
Oncology
Peng Zhang, Yunyun Duan, Guocan Gu, Liying Qu, Dan Xiao, Tianshu Xi, Changcun Pan, Ya'ou Liu, Liwei Zhang
Summary: This retrospective study investigated the clinical, radiological, and pathological features of 80 pediatric diffuse intrinsic pontine gliomas (DIPGs). The most common symptoms were cranial nerve palsy and limb weakness. Radiological results showed enhancement as a common feature. Surgery followed by comprehensive therapy improved overall survival, and H3K27 alteration was identified as an independent prognostic factor for DIPGs.
FRONTIERS IN ONCOLOGY
(2023)
Article
Clinical Neurology
Yi Wang, Changcun Pan, Mingguo Xie, Pengcheng Zuo, Xiaoou Li, Guocan Gu, Tian Li, Zhuang Jiang, Zhen Wu, Junting Zhang, Liwei Zhang
Summary: This study investigates the clinical, radiological, pathological, molecular, and treatment aspects of adult DIPG patients. It finds a high frequency of H3K27M and IDH1 mutations, and poor prognosis in patients who did not receive treatment. It also identifies clinical and radiological characteristics associated with prognosis.
JOURNAL OF NEUROSURGERY
(2022)
Article
Oncology
Lara Chavaz, Geert O. Janssens, Stephanie Bolle, Henry Mandeville, Monica Ramos-Albiac, Karen Van Beek, Helen Benghiat, Bianca Hoeben, Andres Morales La Madrid, Clemens Seidel, Rolf-Dieter Kortmann, Darren Hargrave, Lorenza Gandola, Emilia Pecori, Dannis G. van Vuurden, Veronica Biassoni, Maura Massimino, Christof M. Kramm, Andre O. von Bueren
Summary: This study investigates the improvement of neurological triad in patients with DIPG who received re-irradiation. The results show that a re-irradiation dose of 20 Gy provides neurological benefits in two-thirds of the patients.
FRONTIERS IN ONCOLOGY
(2022)
Review
Medicine, General & Internal
Michal Kotowski
Summary: Developmental midline nasal masses, including nasal dermoids, encephaloceles, and nasal glial heterotopias, result from disrupted embryonal developmental processes in the frontonasal region. Surgery is the only treatment method to prevent complications and deformities. Meticulous preoperative differential diagnostics are necessary due to their rarity and similar features.
Article
Oncology
Peng Du, Xuefan Wu, Xiao Liu, Jiawei Chen, Aihong Cao, Daoying Geng
Summary: The predictive model based on preoperative MRI radiomics established in this study can accurately diagnose DAG-G, which is of great significance in optimizing treatment plans and improving patient prognosis.
Article
Oncology
Alyssa Noll, Carrie Myers, Matthew C. Biery, Michael Meechan, Sophie Tahiri, Asmitha Rajendran, Michael E. Berens, Danyelle Paine, Sara Byron, Jiaming Zhang, Conrad Winter, Fiona Pakiam, Sarah E. S. Leary, Bonnie L. Cole, Evangeline R. Jackson, Matthew D. Dun, Jessica B. Foster, Myron K. Evans, Siobhan S. Pattwell, James M. Olsona, Nicholas A. Vitanza
Summary: In this study, the efficacy of histone deacetylase inhibitors (HDACis) against hypermutant DIPG was evaluated using a clinically relevant DIPG model. Quisinostat and romidepsin were found to have low IC50s against hypermutant DIPG. Quisinostat showed high efficacy and increased sensitivity in MMR-deficient DIPG models. These findings support further investigation of HDACis against high-grade gliomas and other hypermutant CNS tumors.
Article
Multidisciplinary Sciences
Yohei Asano, Shinji Miwa, Norio Yamamoto, Katsuhiro Hayashi, Akihiko Takeuchi, Kentaro Igarashi, Hirotaka Yonezawa, Yoshihiro Araki, Sei Morinaga, Takayuki Nojima, Hiroko Ikeda, Hiroyuki Tsuchiya
Summary: This study evaluated the diagnostic accuracy of various examinations for differential diagnosis between atypical lipomatous tumor/well-differentiated liposarcoma (ALT/WDLS) and lipoma, and developed a new combined scoring system for preoperative diagnosis. The scoring system based on six predictive factors achieved high diagnostic accuracy without requiring special equipment and reagents.
SCIENTIFIC REPORTS
(2022)
Letter
Clinical Neurology
Arnault Tauziede-Espariat, Marie-Anne Debily, David Castel, Jacques Grill, Stephanie Puget, Alexandre Roux, Raphael Saffroy, Guillaume Gauchotte, Ellen Wahler, Lauren Hasty, Fabrice Chretien, Emmanuele Lechapt, Volodia Dangouloff-Ros, Nathalie Boddaert, Philipp Sievers, Pascale Varlet
Summary: Accurate diagnosis of pediatric bithalamic gliomas requires a comprehensive neuropathological review, including immunohistochemistry, genetic, and epigenetic analyses.
Letter
Clinical Neurology
Oumaima Aboubakr, Alice Metais, Charlotte Berthaud, Priscille Gigant, Leila Mehdi, Noemie Pucelle, Joelle Lacombe, Lauren Hasty, Fabrice Chretien, Emmanuele Lechapt, Pascale Varlet, Arnault Tauziede-Espariat
JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY
(2022)
Article
Biochemistry & Molecular Biology
Guenaelle Levallet, Fatemeh Dubois, Arthur Leclerc, Edwige Petit, Lien Bekaert, Maxime Faisant, Christian Creveuil, Evelyne Emery, Gerard Zalcman, Emmanuele Lechapt-Zalcman
Summary: This study demonstrates that changes in miRNA expression related to angiogenesis and hypoxia occur in patients with diffuse gliomas, and these miRNAs are correlated with histology/grade of gliomas and predict patient survival and progression-free survival.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Neurosciences
Arnault Tauziede-Espariat, Thibaut Pierre, Michel Wassef, David Castel, Florence Riant, Jacques Grill, Alexandre Roux, Johan Pallud, Edouard Dezamis, Damien Bresson, Sandro Benichi, Thomas Blauwblomme, Djallel Benzohra, Guillaume Gauchotte, Celso Pouget, Sophie Colnat-Coulbois, Karima Mokhtari, Corinne Balleyguier, Frederique Larousserie, Volodia Dangouloff-Ros, Nathalie Boddaert, Marie-Anne Debily, Lauren Hasty, Marc Polivka, Homa Adle-Biassette, Alice Metais, Emmanuele Lechapt, Fabrice Chretien, Felix Sahm, Philipp Sievers, Pascale Varlet
Summary: This study identified three unclassified vascular lesions in the central nervous system (CNS) that shared radiological and histopathological features similar to a subtype of angioleiomyomas in soft tissue. Molecular analysis revealed a common GJA4 mutation in these lesions, which was also found in soft tissue angioleiomyomas. Further analysis showed that these CNS lesions formed a distinct epigenetic group separate from other vascular tumors and soft tissue angioleiomyomas.
ACTA NEUROPATHOLOGICA COMMUNICATIONS
(2022)
Article
Clinical Neurology
Jonathan Kjaer Gronbaek, Aske Foldbjerg Laustsen, Sebastian Toescu, Barry Pizer, Conor Mallucci, Kristian Aquilina, Emanuela Molinari, Magnus Aasved Hjort, Lingvita Gumbeleviciene, Peter Hauser, Beatrix Palmafy, Kirsten van Baarsen, Eelco Hoving, Julian Zipfel, Christoffer Ehrstedt, Pernilla Grillner, Michael Thude Callesen, Radek Fric, Morten Wibroe, Karsten Nysom, Kjeld Schmiegelow, Astrid Sehested, Rene Mathiasen, Marianne Juhler
Summary: According to the study, there is no significant relationship between handedness and postoperative speech impairment. The study does not support the hypothesis that left-handedness should be of clinical relevance in the risk assessment of CMS.
CHILDS NERVOUS SYSTEM
(2022)
Article
Clinical Neurology
Elizabeth Schepke, Maja Lofgren, Torsten Pietsch, Thomas Olsson Bontell, Teresia Kling, Anna Wenger, Sandra Ferreyra Vega, Anna Danielsson, Sandor Dosa, Stefan Holm, Anders Oberg, Per Nyman, Marie Eliasson-Hofvander, Per-Erik Sandstrom, Stefan M. Pfister, Birgitta Lannering, Magnus Sabel, Helena Caren
Summary: DNA methylation analysis is a reliable method for the precise diagnosis of paediatric brain tumours, providing important molecular information for treatment decisions.
NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY
(2022)
Article
Clinical Neurology
Melanie Pages, Marie-Anne Debily, Frederic Fina, David T. W. Jones, Raphael Saffroy, David Castel, Thomas Blauwblomme, Alice Metais, Marie Bourgeois, Emmanuele Lechapt-Zalcman, Arnault TauziedeEspariat, Felipe Andreiuolo, Fabrice Chretien, Jacques Grill, Nathalie Boddaert, Dominique Figarella-Branger, Rameen Beroukhim, Pascale Varlet
Summary: Dysembryoplastic neuroepithelial tumour (DNT) is a challenging glioneuronal tumour with diverse histological features. The study used comprehensive analysis techniques to characterize 82 DNTs, revealing differences between specific and non-specific/diffuse DNTs, as well as identifying additional genomic alterations in a subset of DNTs.
NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY
(2022)
Article
Oncology
Olof Rask, Fredrik Nilsson, Paivi Lahteenmaki, Christoffer Ehrstedt, Stefan Holm, Per-Erik Sandstrom, Per Nyman, Magnus Sabel, Pernilla Grillner
Summary: This study investigates the diagnostic time intervals for tumors of the central nervous system in children and adolescents in Sweden and identifies factors associated with delayed diagnosis. The results provide valuable insights for clinical improvement.
PEDIATRIC BLOOD & CANCER
(2022)
Article
Clinical Neurology
Volodia Dangouloff-Ros, Jacobus F. A. Jansen, Joost de Jong, Alida A. Postma, Christianne Hoeberigs, Ludovic Fillon, Jennifer Boisgontier, Charles-Joris Roux, Raphael Levy, Pascale Varlet, Thomas Blauwblomme, Monika Eisermann, Emma Losito, Marie Bourgeois, Catherine Chiron, Rima Nabbout, Nathalie Boddaert, Walter Backes
Summary: This study aimed to evaluate the potential of resting-state functional MRI (rs-fMRI) blood oxygenation level dependent (BOLD) metrics in detecting focal cortical dysplasias (FCDs) in children. The study found that an increase in ReHo may help detect MRI-negative FCDs.
Letter
Neurosciences
Arnault Tauziede-Espariat, Yassine Ajlil, Marie-Anne Debily, David Castel, Jacques Grill, Stephanie Puget, Lauren Hasty, Fabrice Chretien, Alice Metais, Volodia Dangouloff-Ros, Nathalie Boddaert, Pascale Varlet
ACTA NEUROPATHOLOGICA COMMUNICATIONS
(2023)
Letter
Neurosciences
Lea Guerrini-Rousseau, Arnault Tauziede-Espariat, David Castel, Etienne Rouleau, Philipp Sievers, Raphael Saffroy, Kevin Beccaria, Thomas Blauwblomme, Lauren Hasty, Franck Bourdeaut, Jacques Grill, Pascale Varlet, Marie-Anne Debily
ACTA NEUROPATHOLOGICA COMMUNICATIONS
(2023)
Article
Clinical Neurology
S. Neumane, A. Lesage, V. Dangouloff-Ros, R. Levy, C. -J. Roux, M. P. Robert, D. Bremond-Gignac, N. Boddaert
Summary: The study retrospectively reviewed the MR imaging of 27 children to describe the signal of common pediatric orbital lesions on arterial spin-labeling and evaluate its ability to discriminate malignant from benign masses. The arterial spin-labeling perfusion patterns were classified into homogeneous hypoperfusion, heterogeneous hyperperfusion, and homogeneous intense hyperperfusion. Arterial spin-labeling was found to be valuable in improving the diagnostic confidence of some orbital lesions.
AMERICAN JOURNAL OF NEURORADIOLOGY
(2023)
Article
Medicine, General & Internal
Flavie Grenier-Chartrand, Maxime Taverne, Syril James, Lelio Guida, Giovanna Paternoster, Klervie Loiselet, Kevin Beccaria, Volodia Dangouloff-Ros, Raphael Levy, Timothee de St Denis, Thomas Blauwblomme, Roman Hossein Khonsari, Nathalie Boddaert, Sandro Benichi
Summary: This study assessed the relevance of using multi-positional MRI to identify cranio-vertebral junction instability in pediatric patients with CVJ anomalies. It identified specific morphometric parameters and cutoff values that could serve as objective mMRI criteria. Qualitative analysis also found correlations between instability and specific C2 anomalies.
JOURNAL OF CLINICAL MEDICINE
(2023)
Article
Oncology
Virginie Menez, Thomas Kergrohen, Tal Shasha, Claudia Silva-Evangelista, Ludivine Le Dret, Lucie Auffret, Chloe Subecz, Manon Lancien, Yassine Ajlil, Irma Segoviano Vilchis, Kevin Beccaria, Thomas Blauwblomme, Estelle Oberlin, Jacques Grill, David Castel, Marie-Anne Debily
Summary: This study aimed to elucidate the mechanisms of VRK3 depletion and observed changes in gene expression and metabolism. This is of significant importance for understanding cancer cell growth and treating DMG-H3K27M.
FRONTIERS IN ONCOLOGY
(2023)