Article
Clinical Neurology
Cathal John Hannan, Charlotte Hammerbeck-Ward, Omar Nathan Pathmanaban, Miriam J. Smith, Scott A. A. Rutherford, Simon K. K. Lloyd, Simon Richard Mackenzie Freeman, Andrew J. Wallace, Andrew Thomas King, Dafydd Gareth Richard Evans
Summary: Patients presenting with unilateral vestibular schwannomas (UVS) and multiple meningiomas (MM) are more likely to be diagnosed with neurofibromatosis type 2 (NF2) compared to patients with UVS and multiple nonintradermal schwannomas (NIDS), but less likely to develop bilateral vestibular schwannomas. Some patients with MM without meeting NF2 criteria have pathogenic variants in SMARCE1 and mosaic NF2.
Article
Clinical Neurology
Shuhei Yamada, Noriyuki Kijima, Tomoyoshi Nakagawa, Ryuichi Hirayama, Manabu Kinoshita, Naoki Kagawa, Haruhiko Kishima
Summary: This study identified factors influencing clinical symptoms and determined a threshold tumor volume for predicting symptomatic progression in patients with convexity, parasagittal, and falx meningiomas, with a threshold volume of 21.1 ml.
FRONTIERS IN NEUROLOGY
(2021)
Article
Clinical Neurology
Shuhei Yamada, Ryuichi Hirayama, Takamitsu Iwata, Hideki Kuroda, Tomoyoshi Nakagawa, Tomofumi Takenaka, Noriyuki Kijima, Yoshiko Okita, Naoki Kagawa, Haruhiko Kishima
Summary: This study aimed to determine the typical speed of growth and assess the growth risk of convexity, parasagittal, and falx meningiomas. MRI data of 313 patients were analyzed and significant differences in growth rate and volume change were found based on sex, age, and MRI signal intensity. The extremely high-growth group showed a typical increase in tumor volume of 2.24 times over 5 years, while the low-growth group showed little change.
JOURNAL OF NEUROSURGERY
(2023)
Article
Genetics & Heredity
Scott R. Plotkin, Ludwine Messiaen, Eric Legius, Patrice Pancza, Robert A. Avery, Jaishri O. Blakeley, Dusica Babovic-Vuksanovic, Rosalie Ferner, Michael J. Fisher, Jan M. Friedman, Marco Giovannini, David H. Gutmann, Clemens Oliver Hanemann, Michel Kalamarides, Hildegard Kehrer-Sawatzki, Bruce R. Korf, Victor-Felix Mautner, Mia MacCollin, Laura Papi, Katherine A. Rauen, Vincent Riccardi, Elizabeth Schorry, Miriam J. Smith, Anat Stemmer-Rachamimov, David A. Stevenson, Nicole J. Ullrich, David Viskochil, Katharina Wimmer, Kaleb Yohay, Susan M. Huson, Pierre Wolkenstein, D. Gareth Evans
Summary: The study aims to update the diagnostic criteria for neurofibromatosis type 2 (NF2) and schwannomatosis (SWN) by incorporating recent advances in genetics, ophthalmology, neuropathology, and neuroimaging. The updated criteria include clinical features and genetic testing, emphasizing the phenotypic overlap between the two conditions.
GENETICS IN MEDICINE
(2022)
Article
Medical Laboratory Technology
Yu Li, Lulu Chen, Dongqi Shao, Binbin Zhang, Shan Xie, Xialin Zheng, Zhiquan Jiang
Summary: In this report, a rare case of familial intraluminal schwannomatosis was described, and gene testing revealed a splice mutation in the SMARCB1 gene.
JOURNAL OF CLINICAL LABORATORY ANALYSIS
(2022)
Article
Oncology
Serena Ammendola, Michele Simbolo, Chiara Ciaparrone, Paola Chiara Rizzo, Maria Caffo, Giampietro Pinna, Francesco Sala, Aldo Scarpa, Valeria Barresi
Summary: Intraventricular meningiomas are rare brain tumors with potentially life-threatening complications during surgical resection. This study characterizes the molecular profile of these tumors and identifies NF2 mutation as a recurring alteration. These findings provide potential therapeutic targets for the treatment of these tumors.
Article
Oncology
Junhyung Kim, Kihwan Hwang, Hyun Jung Kwon, Ji Eun Lee, Kyu Sang Lee, Gheeyoung Choe, Jung Ho Han, Chae-Yong Kim
Summary: Grade 2/3 meningiomas display a wide range of molecular profiles, with some cases showing increased treatment resistance due to TERT promoter hotspot mutations. Recurrent mutations in TRAF and AKT1 were identified at higher rates compared to previous studies, but their relationships to other histopathological characteristics or clinical factors were rarely observed.
FRONTIERS IN ONCOLOGY
(2022)
Review
Clinical Neurology
Niklas von Spreckelsen, Christoph Kesseler, Benjamin Brokinkel, Roland Goldbrunner, Arie Perry, Christian Mawrin
Summary: Invasion of brain tissue by meningiomas is a key factor for their recurrence, but specific treatment approaches targeting the invasive process are not established. This article compiles current knowledge about mechanisms supporting brain tissue invasion by meningiomas and summarizes preclinical models studying targeted therapies with potential inhibitory effects.
Article
Oncology
Weiping Hong, Changguo Shan, Minting Ye, Yanying Yang, Hui Wang, Furong Du, Xing Zhang, Chao Song, Linbo Cai
Summary: Surgical resection can cure most meningiomas, but approximately 20% of patients experience recurrence or progression. This study reported a case of multiple recurrent meningiomas with a novel GNAS mutation and 1p/22q co-deletion responding to sunitinib, highlighting the importance of timely molecular diagnosis in guiding treatment strategies for refractory meningiomas.
FRONTIERS IN ONCOLOGY
(2021)
Review
Surgery
Ren-jie Wei, Xiao-lin Wu, Feng Xia, Jing-cao Chen
Summary: This case report describes a rare occurrence of a 38-year-old male patient with multiple meningiomas combined with multiple aneurysms. The patient underwent a single surgery for tumor resection and clipping procedure, confirming the presence of meningiomas.
FRONTIERS IN SURGERY
(2022)
Article
Biochemistry & Molecular Biology
Rina Di Bonaventura, Maurizio Martini, Tonia Cenci, Valerio Maria Caccavella, Valeria Barresi, Marco Gessi, Alessio Albanese, Liverana Lauretti, Roberto Pallini, Quintino Giorgio D'Alessandris, Alessandro Olivi
Summary: Meningiomas, mostly benign tumors, can sometimes display aggressive behavior and recurrence despite complete resection. This study investigated the role of SOX2 in predicting the aggressiveness of meningioma and found that SOX2 expression at first surgery is strongly related to the clinical behavior, histological grade, and risk of recurrence of meningioma. Additionally, SOX2 expression is associated with overall and recurrence-free survival in patients.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Oncology
Farshad Nassiri, Justin Z. Wang, Olivia Singh, Shirin Karimi, Tatyana Dalcourt, Nazanin Ijad, Neda Pirouzmand, Ho-Keung Ng, Andrea Saladino, Bianca Pollo, Francesco Dimeco, Stephen Yip, Andrew Gao, Kenneth D. Aldape, Gelareh Zadeh
Summary: The loss of H3K27me3 in meningiomas is associated with worse outcomes, particularly in WHO grade 2 tumors. However, it is not independently associated with recurrence-free survival after controlling for other factors like WHO grade, extent of resection, sex, age, and tumor recurrence status. Further studies with standardized reporting are needed to confirm these findings.
Article
Oncology
Hussein M. Abdallah, Arka N. Mallela, Zhishuo Wei, Hussam Abou-Al-Shaar, Ajay Niranjan, L. Dade Lunsford
Summary: This study reports the outcomes of Gamma Knife radiosurgery (GKRS) for meningiomas arising from the confluence of the falx and tentorium (CFT), showing that GKRS is a valuable and safe therapeutic strategy for newly diagnosed CFT meningiomas or progressive residual tumors after surgical resection, with high tumor control rates and overall survival rates.
JOURNAL OF NEURO-ONCOLOGY
(2023)
Article
Clinical Neurology
Elmar Kirches, Felix Sahm, Andrey Korshunov, Christina Bluecher, Natalie Waldt, Siegfried Kropf, Daniel Schrimpf, Philipp Sievers, Damian Stichel, Ulrich Schueller, Jens Schittenhelm, Markus J. Riemenschneider, Matthias A. Karajannis, Arie Perry, Torsten Pietsch, Svenja Boekhoff, David Capper, Katja Beck, Nagarajan Paramasivam, Matthias Schlesner, Priscilla K. Brastianos, Hermann L. Mueller, Stefan M. Pfister, Christian Mawrin
Summary: Pediatric meningiomas exhibit distinct molecular features from adult tumors, characterized by frequent NF2 alterations and absence of typical alterations found in adult non-NF2 tumors. Chromosomal aberrations and DNA methylation profiles in pediatric meningiomas differ from those in adult tumors.
ACTA NEUROPATHOLOGICA
(2021)
Review
Biochemistry & Molecular Biology
Daniel M. Fountain, Miriam J. Smith, Claire O'Leary, Omar N. Pathmanaban, Federico Roncaroli, Nicoletta Bobola, Andrew T. King, Dafydd Gareth Evans
Summary: This review summarizes the pathogenesis and anatomical distribution of meningiomas, highlighting the genetic pathways of these tumors and the differences in meningiomas derived from different sources.
Article
Hematology
Francesco Saettini, Cecilia Poli, Jaime Vengoechea, Sonia Bonanomi, Julio C. Orellana, Grazia Fazio, Fred H. Rodriguez, Loreani P. Noguera, Claire Booth, Valentina Jarur-Chamy, Marissa Shams, Maria Iascone, Maja Vukic, Serena Gasperini, Manuel Quadri, Amairelys Barroeta Seijas, Elizabeth Rivers, Mario Mauri, Raffaele Badolato, Giovanni Cazzaniga, Cristina Bugarin, Giuseppe Gaipa, Wilma G. M. Kroes, Daniele Moratto, Monique M. van Ostaijen-ten Dam, Frank Baas, Silvere van der Maarel, Rocco Piazza, Zeynep H. Coban-Akdemir, James R. Lupski, Bo Yuan, Ivan K. Chinn, Lucia Daxinger, Andrea Biondi
Summary: Agammaglobulinemia, recurrent infections, hypertrophic cardiomyopathy and neutropenia were found in three novel patients in this study. Variants in the gene for folliculin interacting protein 1 (FNIP1) were identified, leading to impaired B-cell metabolism and development. This study highlights the importance of FNIP1 in B-cell development and metabolism.
Article
Genetics & Heredity
Lieke M. van den Heuvel, Samara M. A. Jansen, Suzanne I. M. Alsters, Marco C. Post, Jasper J. van der Smagt, Frances S. Handoko-De Man, J. Peter van Tintelen, Hans Gille, Imke Christiaans, Anton Vonk Noordegraaf, HarmJan Bogaard, Arjan C. Houweling
Article
Surgery
Fons F. van den Berg, Yama Issa, Jeroen P. Vreijling, Markus M. Lerch, Frank Ulrich Weiss, Marc G. Besselink, Frank Baas, Marja A. Boermeester, Hjalmar C. van Santvoort
Summary: Genomic sequencing revealed that ZNF106 and SLC52A1 may be associated with the development of early multiple organ failure in acute pancreatitis.
Article
Clinical Neurology
Krista Kuitwaard, Pieter A. van Doorn, Thiziri Bengrine, Wouter van Rijs, Frank Baas, Sietse Q. Nagelkerke, Taco W. Kuijpers, Willem-Jan R. Fokkink, Carina Bunschoten, Merel C. Broers, Sten P. Willemsen, Bart C. Jacobs, Ruth Huizinga
Summary: Variations in PRF1 and the promoter region of FCGR2B are associated with the response to IVIg in CIDP. These findings, which require validation, are a first step towards the understanding of the heterogeneity in the treatment response in CIDP.
EUROPEAN JOURNAL OF NEUROLOGY
(2021)
Article
Neurosciences
Ramita Dewan, Ruth Chia, Jinhui Ding, Richard A. Hickman, Thor D. Stein, Yevgeniya Abramzon, Sarah Ahmed, Marya S. Sabir, Makayla K. Portley, Arianna Tucci, Kristina Ibanez, F. N. U. Shankaracharya, Pamela Keagle, Giacomina Rossi, Paola Caroppo, Fabrizio Tagliavini, Maria L. Waldo, Per M. Johansson, Christer F. Nilsson, James B. Rowe, Luisa Benussi, Giuliano Binetti, Roberta Ghidoni, Edwin Jabbari, Coralie Viollet, Jonathan D. Glass, Andrew B. Singleton, Vincenzo Silani, Owen A. Ross, Mina Ryten, Ali Torkamani, Toshiko Tanaka, Luigi Ferrucci, Susan M. Resnick, Stuart Pickering-Brown, Christopher B. Brady, Neil Kowal, John A. Hardy, Vivianna Van Deerlin, Jean Paul Vonsattel, Matthew B. Harms, Huw R. Morris, Raffaele Ferrari, John E. Landers, Adriano Chio, J. Raphael Gibbs, Clifton L. Dalgard, Sonja W. Scholz, Bryan J. Traynor
Summary: Researchers analyzed whole-genome sequence data from 2,442 FTD/ALS patients, 2,599 LBD patients, and 3,158 neurologically healthy subjects, identifying pathogenic HTT gene expansions in a small percentage of FTD/ALS patients but not in the LBD or healthy groups. Postmortem evaluations supported an etiological relationship between HTT repeat expansions and FTD/ALS syndromes, suggesting the importance of genetic screening for HTT repeat expansions in FTD/ALS patients.
Article
Clinical Neurology
Janel O. Johnson, Ruth Chia, Danny E. Miller, Rachel Li, Ravindran Kumaran, Yevgeniya Abramzon, Nada Alahmady, Alan E. Renton, Simon D. Topp, J. Raphael Gibbs, Mark R. Cookson, Marya S. Sabir, Clifton L. Dalgard, Claire Troakes, Ashley R. Jones, Aleksey Shatunov, Alfredo Iacoangeli, Ahmad Al Khleifat, Nicola Ticozzi, Vincenzo Silani, Cinzia Gellera, Ian P. Blair, Carol Dobson-Stone, John B. Kwok, Emily S. Bonkowski, Robin Palvadeau, Pentti J. Tienari, Karen E. Morrison, Pamela J. Shaw, Ammar Al-Chalabi, Robert H. Brown, Andrea Calvo, Gabriele Mora, Hind Al-Saif, Marc Gotkine, Fawn Leigh, Irene J. Chang, Seth J. Perlman, Ian Glass, Anna Scott, Christopher E. Shaw, A. Nazli Basak, John E. Landers, Adriano Chio, Thomas O. Crawford, Bradley N. Smith, Bryan J. Traynor
Summary: This study identified variants in the SPTLC1 gene associated with juvenile ALS, suggesting that screening for these variants may be important for patients presenting with juvenile ALS.
Review
Physiology
Ahlem Achour, Tamara T. Koopmann, Frank Baas, Cornelis L. Harteveld
Summary: Next-generation sequencing (NGS) has rapidly transitioned from a research setting to a clinical application, becoming the preferred method for detecting disease-causing variants in various genetic diseases. NGS plays an important role in screening and diagnosing hemoglobinopathies, with added value in large-scale screening and complex cases. It is a useful addition to existing methods for diagnosing these disorders.
FRONTIERS IN PHYSIOLOGY
(2021)
Article
Multidisciplinary Sciences
Samoil Sekulovski, Pascal Devant, Silvia Panizza, Tasos Gogakos, Anda Pitiriciu, Katharina Heitmeier, Ewan Phillip Ramsay, Marie Barth, Carla Schmidt, Thomas Tuschl, Frank Baas, Stefan Weitzer, Javier Martinez, Simon Trowitzsch
Summary: Mutations within subunits of the tRNA splicing endonuclease complex are associated with pontocerebellar hypoplasia, and modulation of TSEN stability may contribute to the disease phenotype.
NATURE COMMUNICATIONS
(2021)
Article
Clinical Neurology
Remco J. Hack, Minne N. Cerfontaine, Gido Gravesteijn, Stephan Tap, Anne Hafkemeijer, Jeroen van der Grond, Marie-Noelle Witjes-Ane, Frank Baas, Julie W. Rutten, Saskia A. J. Lesnik Oberstein
Summary: This study is the first genotype-driven, large prospective CADASIL cohort study, and the results indicate that the NOTCH3 EGFr group is the most important modifier in CADASIL disease. Male sex and hypertension also have a significant impact on clinical outcomes and neuroimaging markers.
Article
Biochemistry & Molecular Biology
Florine Seidel, Robert Kleemann, Wim van Duyvenvoorde, Nikki van Trigt, Nanda Keijzer, Sandra van der Kooij, Cees van Kooten, Lars Verschuren, Aswin Menke, Amanda J. Kiliaan, Johnathan Winter, Timothy R. Hughes, B. Paul Morgan, Frank Baas, Kees Fluiter, Martine C. Morrison
Summary: Complement inhibition with an anti-C5 antibody is not effective in reducing the progression of NASH but is beneficial in established atherosclerosis.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Biochemistry & Molecular Biology
Tetske Dijkstra, Lieke M. van den Heuvel, J. Peter van Tintelen, Christian van der Werf, Irene M. van Langen, Imke Christiaans
Summary: In inherited and familial cardiovascular diseases, family members without symptoms can still be at risk. We developed expert-based family criteria for individual risk assessment. Through online focus groups and a Delphi procedure, we reached consensus on five family criteria that focus on cardiovascular events at young age and/or inherited CVD in close relatives. These criteria showed substantial diagnostic accuracy, and we plan to incorporate them into a digital tool for public risk assessment.
EUROPEAN JOURNAL OF HUMAN GENETICS
(2023)
Article
Cardiac & Cardiovascular Systems
Caroline Pham, Karolina Andrzejczyk, Sean J. Jurgens, Ronald Lekanne Deprez, Kaylin C. A. Palm, Alexa M. C. Vermeer, Janneke Nijman, Imke Christiaans, Daniela Q. C. M. Barge-Schaapveld, Pascal F. H. M. van Dessel, Leander Beekman, Seung Hoan Choi, Steven A. Lubitz, Doris Skoric-Milosavljevic, Lisa van den Bersselaar, Philip R. Jansen, Jael S. Copier, Patrick T. Ellinor, Arthur A. M. Wilde, Connie R. Bezzina, Elisabeth M. Lodder
Summary: This study conducted a retrospective study on a cohort of patients undergoing genetic testing for cardiac arrhythmias and cardiomyopathy, and found an enrichment of rare coding variants in the TNNI3K gene in patients with dilated cardiomyopathy. Additionally, they identified two novel pathogenic variants with increased autophosphorylation, suggesting that enhanced autophosphorylation may be a mechanism of pathogenicity.
CIRCULATION-GENOMIC AND PRECISION MEDICINE
(2023)
Letter
Oncology
Erik B. van den Akker, Stavros Makrodimitris, Marc Hulsman, Martijn H. Brugman, Tatjana Nikolic, Ted Bradley, Quinten Waisfisz, Frank Baas, Marja E. Jakobs, Daphne de Jong, P. Eline Slagboom, Frank J. T. Staal, Marcel J. T. Reinders, Henne Holstege
Article
Biochemistry & Molecular Biology
Bart Appelhof, Matias Wagner, Julia Hoefele, Anja Heinze, Timo Roser, Margarete Koch-Hogrebe, Stefan D. Roosendaal, Mohammadreza Dehghani, Mohammad Yahya Vahidi Mehrjardi, Erin Torti, Henry Houlden, Reza Maroofian, Farrah Rajabi, Heinrich Sticht, Frank Baas, Dagmar Wieczorek, Rami Abou Jamra
Summary: This study describes eight children with Pontocerebellar hypoplasia (PCH) from four unrelated families carrying homozygous variants in the MINPP1 gene. These variants result in either a complete absence of MINPP1, impaired protein folding, destabilization of protein structure or reduction in protein stability, leading to the pathogenesis of the disease. This study presents MINPP1 as a novel autosomal recessive gene associated with PCH.
EUROPEAN JOURNAL OF HUMAN GENETICS
(2021)
Article
Clinical Neurology
Tessa van Dijk, Peter Barth, Frank Baas, Liesbeth Reneman, Bwee Tien Poll-The
Summary: The study confirmed the progressive nature of caudate nucleus atrophy in PCH1B and PCH2A, while the relative sparing of supratentorial structures in MICPCH cases indicates a different pathomechanism.