Article
Cell Biology
Anika Bongaarts, Caroline Mijnsbergen, Jasper J. Anink, Floor E. Jansen, Wim G. M. Spliet, Wilfred F. A. den Dunnen, Roland Coras, Ingmar Bluemcke, Werner Paulus, Victoria E. Gruber, Theresa Scholl, Johannes A. Hainfellner, Martha Feucht, Katarzyna Kotulska, Sergiusz Jozwiak, Wieslawa Grajkowska, Anna Maria Buccoliero, Chiara Caporalini, Flavio Giordano, Lorenzo Genitori, Figen Soylemezoglu, Jose Pimentel, David T. W. Jones, Brendon P. Scicluna, Antoinette Y. N. Schouten-van Meeteren, Angelika Muhlebner, James D. Mills, Eleonora Aronica
Summary: The study found that the methylation profile of SEGAs was enriched for the adaptive immune system, T cell activation, leukocyte mediated immunity, extracellular structure organization, and the ERK1 & ERK2 cascade. Additionally, two subgroups were identified in the SEGA methylation data, with differentially expressed genes related to the MAPK cascade and adaptive immune response. This suggests that therapeutic interventions targeting DNA methylation could potentially be useful for treating SEGAs.
CELLULAR AND MOLECULAR NEUROBIOLOGY
(2022)
Article
Cell Biology
Ann-Sofie De Meulemeester, Lise Heylen, Aleksandra Siekierska, James D. Mills, Alessia Romagnolo, Nicole N. van der Wel, Eleonora Aronica, Peter A. M. de Witte
Summary: TSC is a genetic disorder caused by mutations in TSC1 and TSC2 genes. A double mutant zebrafish model was used to study the disease, and it was found that the double mutants had a more severe phenotype and could be rescued by rapamycin. The transcriptome of the double mutant zebrafish larvae strongly overlapped with human SEGA lesions.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2022)
Review
Oncology
Pushan Dasgupta, Veerakumar Balasubramanyian, John F. F. de Groot, Nazanin K. K. Majd
Summary: Preclinical models are crucial for understanding glioma biology and developing therapeutics. However, the development of ideal models is challenging due to various factors, such as genetic background, tumor heterogeneity, intact blood-brain barrier, and the tumor microenvironment. In this review, we discuss in vitro and in vivo models of glioma and the challenges involved in developing optimal models.
Article
Clinical Neurology
Seiji Yamada, Motoki Tanikawa, Yuko Matsushita, Ryota Fujinami, Hiroshi Yamada, Kaishi Sakomi, Tomohiro Sakata, Hidehito Inagaki, Hideaki Yokoo, Koichi Ichimura, Mitsuhito Mase
Summary: SEGA-like circumscribed astrocytoma is a rare tumor that occurs in elderly patients and exhibits high-grade molecular features, but further research is needed to understand its underlying molecular mechanisms.
Review
Oncology
Marco Gallus, Darwin Kwok, Senthilnath Lakshmanachetty, Akane Yamamichi, Hideho Okada
Summary: IDH-mutant low-grade gliomas (LGG) are slow-growing glial cell-derived tumors of the central nervous system (CNS) that predominantly manifest in young adults and often show malignant transformation. Despite therapeutic advances in other areas, immunotherapies remain ineffective in treating LGG patients. This review summarizes relevant research findings and discusses challenges and lessons learned from clinical trials, as well as future perspectives on improving immunotherapy for IDH-mutant LGG.
Article
Cell Biology
Jiang Xiulin, Chunyan Wang, Jishu Guo, Chenyang Wang, Chenglong Pan, Zhi Nie
Summary: The study found that 11 HOXAs were consistently up-regulated in both LGG and GBM tissues. Higher expression of HOXAs was significantly associated with advanced tumor stage, IDH mutation status, 1p/19q co-deletion, histological type, and primary therapy outcome. Survival analyses showed that elevated expression of various HOXAs correlated with shorter overall survival, disease-specific survival, and progression-free survival in LGG patients. Furthermore, the study revealed HOXAs' involvement in inflammatory response and immune regulation signaling pathways, as well as their correlation with immune cell infiltration, immune modulator, and drug sensitivity.
Article
Oncology
Danielle Golub, Daniel G. Lynch, Peter C. Pan, Benjamin Liechty, Cheyanne Slocum, Tejus Bale, David J. Pisapia, Rupa Juthani
Summary: Polymorphous low-grade neuroepithelial tumor of the young (PLNTY) is a rare tumor that can mimic high-grade glioma in histologic and molecular features. This study describes a case of indolent neuroepithelial neoplasm in an adult female patient and compares it with adult glioma patients harboring FGFR3-TACC3 fusion gene. The presence of FGFR3-TACC3 fusion gene and other high-grade features should raise concern for a more malignant precursor lesion in the diagnosis of PLNTY.
FRONTIERS IN ONCOLOGY
(2023)
Article
Clinical Neurology
Andrew J. Gogos, Jacob S. Young, Matheus P. Pereira, Ramin A. Morshed, Matthew B. Potts, Shawn L. Hervey-Jumper, Mitchel S. Berger
Summary: The study reported the surgical treatment experience for incidental LGG, which were smaller and showed improved overall survival compared to symptomatic tumors.
JOURNAL OF NEUROSURGERY
(2021)
Article
Radiology, Nuclear Medicine & Medical Imaging
Kareem Kudus, Matthias W. Wagner, Khashayar Namdar, Liana Nobre, Eric Bouffet, Uri Tabori, Cynthia Hawkins, Kristen W. Yeom, Birgit B. Ertl-Wagner, Farzad Khalvati
Summary: We established a nomogram to predict BRAF status non-invasively in pediatric low-grade glioma (pLGG) patients, using clinical and radiomic factors. Additionally, we assessed an advanced thresholding method to provide high-confidence predictions. Radiomic features were found to provide additional predictive information beyond tumor location.
EUROPEAN RADIOLOGY
(2023)
Article
Genetics & Heredity
Ming Tu, Ziyi Zuo, Cuie Chen, Xixi Zhang, Shi Wang, Changwei Chen, Yuanyuan Sun
Summary: In this study, the differential expression of tsRNAs between GBMs and LGs was compared to investigate possible pathogenic molecules and provide references for discovering novel nucleic acid drugs in future studies.
Article
Cell Biology
Wenrui Ye, Zhixiong Liu, Fangkun Liu, Cong Luo
Summary: HMOX1 is overexpressed in gliomas and associated with poor survival outcomes. HMOX1-related genes are involved in immune pathways, and patients in the high-risk group exhibit significantly worse survival. Additionally, patients with low HMOX1 expression predict better responses to immunotherapy.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2021)
Article
Oncology
Ziming Hou, Kenan Zhang, Xing Liu, Shengyu Fang, Lianwang Li, Yinyan Wang, Tao Jiang
Summary: The study found that extensive resection may not always prolong survival in patients with gliomas. In addition to clinical characteristics, molecular pathology also positively impacts survival in gliomas. Neurosurgeons may benefit from considering both factors when planning surgery for glioma patients in the future.
Article
Oncology
Evelien Schaafsma, Chongming Jiang, Thinh Nguyen, Kenneth Zhu, Chao Cheng
Summary: This study investigated the relationship between immune-related genes (IRGs) and patient prognosis in glioma. By analyzing gene expression datasets and using single-cell RNAseq data, the researchers found that microglia abundance is negatively associated with survival in glioma patients. They also developed a 23-gene risk score that can effectively stratify patients into low- and high-risk categories.
Article
Clinical Neurology
Jared T. Ahrendsen, Claire Sinai, David M. Meredith, Seth W. Malinowski, Tabitha M. Cooney, Pratiti Bandopadhayay, Keith L. Ligon, Sanda Alexandrescu
Summary: This study examines Pediatric low-grade gliomas leading to death, revealing diverse molecular characteristics and the potential impact of location, co-occurring molecular alterations, and treatment strategies on patient outcomes. Recurrence and progression of tumors, along with specific genetic drivers, play a significant role in predicting survival in these patients.
JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY
(2021)
Review
Medicine, General & Internal
Chao Gao, Bernadeta Zabielska, Fuyong Jiao, Daoqi Mei, Xiaona Wang, Katarzyna Kotulska, Sergiusz Jozwiak
Summary: Tuberous sclerosis complex (TSC) is an autosomal-dominant disorder characterized by tumors in multiple organs, which is caused by mutations inactivating TSC1 or TSC2 genes. Subependymal giant cell astrocytoma (SEGA) is a slow-growing brain tumor almost exclusively associated with TSC. The management of SEGA requires careful consideration of pharmacological or surgical treatment options.
JOURNAL OF CLINICAL MEDICINE
(2023)
Article
Clinical Neurology
Carmen Schwaiger, Thomas Haider, Verena Endmayr, Tobias Zrzavy, Victoria E. Gruber, Gerda Ricken, Anika Simonovska, Simon Hametner, Jan M. Schwab, Romana Hoeftberger
Summary: The myelin-associated inhibitor Nogo-A restricts axonal outgrowth, plasticity, and neural circuitry formation in spinal cord injury. The expression of Nogo-A increases in the perilesional rim but not in the lesion core, suggesting a potential extended therapeutic window for interventions targeting the anti-Nogo-A pathway beyond 4 weeks post-SCI.
Review
Clinical Neurology
Marcello D'Andrea, Lorenzo Mongardi, Francesco Cultrera, Dalila Fuschillo, Simone Peraio, Paul Roblot, Antonio Musio, Luigino Tosatto, Flavio Giordano
Summary: Acute traumatic epidural hematoma is a complication in pediatric head injuries. Conservative treatment may lead to an increase in ossified epidural hematomas, with surgery being the most commonly used treatment. Limited data is available for conservative treatment, and imaging is crucial to rule out complications.
PEDIATRIC NEUROSURGERY
(2023)
Review
Clinical Neurology
Alice Noris, Flavio Giordano, Simone Peraio, Matteo Lenge, Regina Mura, Letizia Macconi, Raffaella Barzaghi, Lorenzo Genitori
Summary: This study retrospectively analyzed 90 patients with loculated hydrocephalus who underwent endoscopic treatment. The results showed that neuroendoscopy can effectively treat loculated hydrocephalus and reduce the number of surgeries and complications.
CHILDS NERVOUS SYSTEM
(2023)
Article
Clinical Neurology
Andreea Nissenkorn, Gerhard Kluger, Susanne Schubert-Bast, Allan Bayat, Marya Bobylova, Paolo Bonanni, Berten Ceulemans, Antonietta Coppola, Carlo Di Bonaventura, Martha Feucht, Anne Fuchs, Gudrun Groeppel, Gali Heimer, Brigitte Herdt, Sviatlana Kulikova, Konstantin Mukhin, Stefania Nicassio, Alessandro Orsini, Maria Panagiotou, Milka Pringsheim, Burkhard Puest, Olga Pylaeva, Georgia Ramantani, Maria Tsekoura, Paolo Ricciardelli, Tally Lerman Sagie, Brigit Stark, Pasquale Striano, Andreas van Baalen, Matthias De Wachter, Emanuele Cerulli Irelli, Claudia Cuccurullo, Celina von Stuelpnagel, Angelo Russo
Summary: A study involving 137 patients with different genetic epilepsies showed that perampanel had high efficacy in treating rare genetic epilepsies, especially in genes such as SCN1A, GNAO1, PIGA, PCDH19, SYNGAP1, CDKL5, NEU1, and POLG. This suggests a targeted effect of perampanel related to glutamate transmission in these patients, demonstrating good safety and efficacy.
Article
Biochemical Research Methods
Enrico Baria, Flavio Giordano, Renzo Guerrini, Chiara Caporalini, Anna Maria Buccoliero, Riccardo Cicchi, Francesco Saverio Pavone
Summary: This study explores the combined application of fluorescence, Raman and diffuse reflectance spectroscopies for the detection and classification of brain tumor and cortical dysplasia with a label-free modality. Multivariate analysis was performed to evaluate classification accuracies of these techniques-employed both in individual and multimodal configuration-obtaining high sensitivity and specificity. Multimodal optical spectroscopy allows reliably differentiating these pathologies using a non-invasive, label-free approach that is faster than the gold standard technique and does not require any tissue processing, offering the potential for the clinical translation of the technology.
BIOMEDICAL OPTICS EXPRESS
(2023)
Article
Computer Science, Artificial Intelligence
Jorg Vorndran, Christoph Neuner, Roland Coras, Lucas Hoffmann, Simon Geffers, Jonas Honke, Jochen Herms, Sigrun Roeber, Hajo Hamer, Sebastian Brandner, Till Hartlieb, Tom Pieper, Manfred Kudernatsch, Christian G. Bien, Thilo Kalbhenn, Matthias Simon, Homa Adle-Biassette, Jesus Cienfuegos, Roberta Di Giacomo, Rita Garbelli, Hajime Miyata, Angelika Muhlebner, Savo Raicevic, Tuomas Rauramaa, Fabio Rogerio, Ingmar Bluemcke, Samir Jabari
Summary: A deep learning-based classifier has been developed to histopathologically diagnose human brain specimens obtained from epilepsy surgery, which helps confirm the underlying cause of focal epilepsy and guide postsurgical patient management. The classifier can automatically recognize different subtypes of Focal Cortical Dysplasia (FCD) with high accuracy. This will aid in the differential histopathology diagnosis of neocortical specimens in epilepsy surgery.
NEURAL COMPUTING & APPLICATIONS
(2023)
Editorial Material
Clinical Neurology
Bernadeta Zabielska, Natalia Rzewuska, Sergiusz Jozwiak
PEDIATRIC NEUROLOGY
(2023)
Article
Oncology
C. Caporalini, M. Scagnet, L. Giunti, V. Cetica, D. Mei, V. Conti, S. Moscardi, L. Macconi, F. Giordano, L. D'Incerti, L. Genitori, R. Guerrini, A. M. Buccoliero
Summary: The study introduces a benign tumor called Myxoid glioneuronal tumor (MGT), which has recently been included in the World Health Organization (WHO) classification of central nervous system (CNS) tumors. MGT is typically located in specific areas within the brain. The researchers identified a recurrent dinucleotide mutation in the PDGFRA gene in six out of 31 tumors previously diagnosed as DNTs, leading to the renaming of these tumors as MGT. Patients with MGT had an indolent clinical course without recurrence.
Review
Medicine, General & Internal
Tessa N. A. Slagboom, Dirk Jan Stenvers, Elsmarieke van de Giessen, Stefan D. D. Roosendaal, Maartje M. L. de Win, Joseph C. J. Bot, Eleonora Aronica, Rene Post, Jantien Hoogmoed, Madeleine L. L. Drent, Alberto M. M. Pereira
Summary: The study provides a structured analysis of the diagnostic accuracy and clinical use of molecular imaging in patients with ACTH-dependent Cushing's syndrome, as well as the role of multidisciplinary counseling in decision making. It proposes a complementary diagnostic algorithm for both de novo and recurrent or persistent Cushing's disease. The use of molecular imaging modalities is of added and complementary value in the detection of pituitary microadenoma in ACTH-dependent Cushing's syndrome.
JOURNAL OF CLINICAL MEDICINE
(2023)
Article
Clinical Neurology
Andrea Di Rita, Matteo Lenge, Giorgio Mantovani, Simone Peraio, Luca Emanuele, Iacopo Sardi, Carla Fonte, Alice Noris, Chiara Spezzani, Flavio Giordano
Summary: In recent years, there has been renewed interest in stereotactic approaches to diffuse intrinsic pontine gliomas (DIPGs) in children. Four children underwent a robot-assisted frame-based transcerebellar approach, which proved to be feasible, safe, and effective. All tissue samplings provided proper histology and accurate targeting was achieved in all cases.
CHILDS NERVOUS SYSTEM
(2023)
Article
Genetics & Heredity
Erika Fiorentini, Laura Giunti, Andrea Di Rita, Simone Peraio, Carla Fonte, Chiara Caporalini, Anna Maria Buccoliero, Maria Luigia Censullo, Giulia Gori, Alice Noris, Rosa Pasquariello, Roberta Battini, Rossana Pavone, Flavio Giordano, Sabrina Giglio, Berardo Rinaldi
Summary: We present a case of a 16-year-old girl with spinal clear-cell multiple meningiomas (CCMs). Genetic testing identified a germline heterozygous variant in SMARCE1, and further investigations confirmed its causative role. This case highlights the importance of next-generation sequencing (NGS) in identifying predisposing genes for meningiomas, particularly in pediatric CCM patients. It also emphasizes the need for molecular assessment and specific screening follow-up for carriers of pathogenic variants in SMARCE1.
EUROPEAN JOURNAL OF MEDICAL GENETICS
(2023)
Article
Biochemistry & Molecular Biology
Tingting Chen, Nad'a Majernikova, Alejandro Marmolejo-Garza, Marina Trombetta-Lima, Angelica Maria Sabogal-Guaqueta, Yuequ Zhang, Ruth ten Kate, Minte Zuidema, Patty P. M. F. A. Mulder, Wilfred den Dunnen, Reinoud Gosens, Elisabeth Verpoorte, Carsten Culmsee, Ulrich L. M. Eisel, Amalia M. Dolga
Summary: Transplanting exogenous mitochondria into neuronal cells can protect cells from ferroptotic cell death by reducing lipid peroxidation and mitochondrial superoxide production. The function of mitochondrial complexes is crucial for the neuroprotective effects of exogenous mitochondria.
FREE RADICAL BIOLOGY AND MEDICINE
(2023)
Article
Critical Care Medicine
Rombout B. E. van Amstel, Jason N. Kennedy, Brendon P. Scicluna, Lieuwe D. J. Bos, Hessel Peters-Sengers, Joe M. Butler, Eddie Cano-Gamez, Julian C. Knight, Alexander P. J. Vlaar, Olaf L. Cremer, Derek C. Angus, Tom van der Poll, Christopher W. Seymour, Lonneke A. van Vught
Summary: Among critically ill patients with sepsis, subtype strategies using clinical, biomarker, and transcriptomic data do not identify comparable patient populations and are likely to reflect disparate clinical characteristics and underlying biology.
INTENSIVE CARE MEDICINE
(2023)
Article
Cell Biology
Valentina La Cognata, Agata Grazia D'Amico, Grazia Maugeri, Giovanna Morello, Maria Guarnaccia, Benedetta Magri, Eleonora Aronica, Velia D'Agata, Sebastiano Cavallaro
Summary: Amyotrophic lateral sclerosis (ALS) is characterized by motor neuron (MN) depletion. CXCR2 has been implicated in ALS pathology and its expression is increased in cortical neurons of sporadic ALS patients. Inhibition of CXCR2 prevents MN degeneration in vitro and improves neuromuscular function in SOD1-G93A mice.
Article
Medicine, General & Internal
Bart R. J. van Dijken, Hanne-Rinck Jeltema, Justyna Klos, Peter Jan van Laar, Roelien H. Enting, Ronald G. H. J. Maatman, Klaas Bijsterveld, Wilfred F. A. Den Dunnen, Rudi A. Dierckx, Paul E. Sijens, Anouk van der Hoorn
Summary: This study proposes a straightforward method for 2-HG quantification by MR spectroscopy for IDH mutation status detection and directly compares in vivo 2-HG MR spectroscopy with ex vivo 2-HG concentration measured in resected tumor tissue. The study shows that in vivo 2-HG MR spectroscopy can non-invasively determine IDH status in glioma and demonstrates a strong correlation with ex vivo 2-HG concentration in patients with lower-grade glioma.