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JOURNAL ARTICLE
Cristina Perez-Becerril, George J Burghel, Claire Hartley, Charles F Rowlands, D Gareth Evans, Miriam J Smith
PURPOSE: To determine the impact of additional genetic screening techniques on the rate of detection of pathogenic variants leading to familial NF2 -related schwannomatosis. METHODS: We conducted genetic screening of a cohort of 168 second-generation individuals meeting the clinical criteria for NF2 -related schwannomatosis. In addition to the current clinical screening techniques, targeted next-generation sequencing (NGS) and multiplex ligation-dependent probe amplification analysis, we applied additional genetic screening techniques, including karyotype and RNA analysis...
February 1, 2024: Journal of Medical Genetics
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JOURNAL ARTICLE
Sina Neyazi, Erika Yamazawa, Karoline Hack, Shota Tanaka, Genta Nagae, Catena Kresbach, Takayoshi Umeda, Alicia Eckhardt, Kenji Tatsuno, Lara Pohl, Taijun Hana, Michael Bockmayr, Phyo Kim, Mario M Dorostkar, Toshihiro Takami, Denise Obrecht, Keisuke Takai, Abigail K Suwala, Takashi Komori, Shweta Godbole, Annika K Wefers, Ryohei Otani, Julia E Neumann, Fumi Higuchi, Leonille Schweizer, Yuta Nakanishi, Camelia-Maria Monoranu, Hirokazu Takami, Lara Engertsberger, Keisuke Yamada, Viktoria Ruf, Masashi Nomura, Theresa Mohme, Akitake Mukasa, Jochen Herms, Shunsaku Takayanagi, Martin Mynarek, Reiko Matsuura, Katrin Lamszus, Kazuhiko Ishii, Lan Kluwe, Hideaki Imai, Andreas von Deimling, Tsukasa Koike, Martin Benesch, Yoshihiro Kushihara, Matija Snuderl, Shohei Nambu, Stephan Frank, Takaki Omura, Christian Hagel, Kazuha Kugasawa, Viktor F Mautner, Koichi Ichimura, Stefan Rutkowski, Hiroyuki Aburatani, Nobuhito Saito, Ulrich Schüller
Ependymomas encompass multiple clinically relevant tumor types based on localization and molecular profiles. Tumors of the methylation class "spinal ependymoma" (SP-EPN) represent the most common intramedullary neoplasms in children and adults. However, their developmental origin is ill-defined, molecular data are scarce, and the potential heterogeneity within SP-EPN remains unexplored. The only known recurrent genetic events in SP-EPN are loss of chromosome 22q and NF2 mutations, but neither types and frequency of these alterations nor their clinical relevance have been described in a large, epigenetically defined series...
January 24, 2024: Acta Neuropathologica
#23
JOURNAL ARTICLE
Malvina O Pietrzykowski, Ana-Maria Vranceanu, Eric A Macklin, Ryan A Mace
PURPOSE: This study aimed to estimate minimal clinically important difference (MCID) values for the World Health Organization Quality of Life Brief version (WHOQOL-BREF) among adults with neurofibromatosis (NF). An MCID is needed to demonstrate clinical meaningfulness of interventions for NF. METHODS: We estimated MCID for the WHOQOL-BREF: the quality of life (QoL) measure recommended by the Response Evaluation in Neurofibromatosis and Schwannomatosis International Collaboration...
January 12, 2024: Quality of Life Research
#24
JOURNAL ARTICLE
Vanessa L Merker, Heather L Thompson, Pamela L Wolters, Frank D Buono, Cynthia M Hingtgen, Tena Rosser, Belinda Barton, Carolina Barnett, Taylor Smith, Diana Haberkamp, Miranda L McManus, Andrea Baldwin, Irene P Moss, Claas Röhl, Staci Martin
BACKGROUND/AIMS: Individuals with neurofibromatosis 1 may experience changes in their appearance due to physical manifestations of the disorders and/or treatment sequelae. Appearance concerns related to these physical changes can lead to psychological distress and poorer quality of life. While many neurofibromatosis 1 clinical trials focus on assessing changes in tumor volume, evaluating patients' perspectives on corresponding changes in symptoms such as physical appearance can be key secondary outcomes...
December 23, 2023: Clinical Trials: Journal of the Society for Clinical Trials
#25
JOURNAL ARTICLE
Katherine E Wang, Ana-Maria Vranceanu, Ethan G Lester
The purpose of this study was to analyze secondary resiliency and user experience outcomes from a novel, 8-week website-based mind-body intervention (NF-Web) for adults (18+) with neurofibromatosis (NF1, NF2, and schwannomatosis), a genetic, neurocutaneous disorder characterized by nerve sheath tumors of the central and peripheral nervous system. The study design was a secondary data analysis of a single-arm, early feasibility pilot study (September 2020-May 2021) for adults with NF (N = 28). Across participants, the mean age was 46 (SD = 13...
2023: PloS One
#26
JOURNAL ARTICLE
Stereotactic Radiosurgery and Radiotherapy for Vestibular Schwannoma in NF2-Related Schwannomatosis.
Manu Shrivastava, Beatrice Emmanouil, Rajeev Mathew, Dorothy Halliday, Allyson Parry, Jane Halliday, Samuel Mackeith
OBJECTIVES: To determine the long-term control rates and hearing outcomes for growing vestibular schwannoma in NF2-related schwannomatosis (NF2) treated with stereotactic radiosurgery (SRS) and fractionated radiotherapy (FRT). METHODS: Retrospective review of all patients treated with SRS/FRT between 1986 and2021 from a tertiary NF2 unit. Overall tumor control was defined as: (1) growth control (growth failure was defined as growth in any dimension of 3 millimetres or more from baseline post-SRS/FRT), and (2) treatment control (no need for further intervention)...
November 20, 2023: Laryngoscope
#27
JOURNAL ARTICLE
Pamela L Wolters, Nour Al Ghriwati, Melissa Baker, Staci Martin, Dale Berg, Gregg Erickson, Barbara Franklin, Vanessa L Merker, Beverly Oberlander, Stephanie Reeve, Claas Rohl, Tena Rosser, Ana-Maria Vranceanu
BACKGROUND/AIMS: Individuals with neurofibromatosis, including neurofibromatosis 1 (NF1), neurofibromatosis 2 (NF2)-related schwannomatosis (SWN), and other forms of SWN, often experience disease manifestations and mental health difficulties for which psychosocial interventions may help. An anonymous online survey of adults with neurofibromatosis assessed their physical, social, and emotional well-being and preferences about psychosocial interventions to inform clinical trial design. METHODS: Neurofibromatosis clinical researchers and patient representatives from the Response Evaluation in Neurofibromatosis and Schwannomatosis International Collaboration developed the survey...
November 14, 2023: Clinical Trials: Journal of the Society for Clinical Trials
#28
JOURNAL ARTICLE
Patrick Debs, Allan Belzberg, Jaishri Blakeley, Laura Fayad, Shannon Langmead, Emily Little, Carlos Romo, Krista Schatz, Bronwyn Slobogean, Shivani Ahlawat
OBJECTIVE: To evaluate the role of weekly neurofibromatosis (NF) multi-disciplinary conferences (MDC) on the diagnostic and therapeutic plan for patients with NF type 1 (NF1) and schwannomatosis (SWN). MATERIALS AND METHODS: This retrospective study reviewed patients with confirmed or suspected NF1 and SWN discussed in weekly MDC from March to July 2021. Demographic data collected included patient age, sex, pre-conference and post-conference diagnosis, radiological studies reviewed, and provider specialties in attendance...
November 11, 2023: Skeletal Radiology
#29
JOURNAL ARTICLE
Verena Staedtke, Kara Anstett, David Bedwell, Marco Giovannini, Kim Keeling, Robert Kesterson, YooRi Kim, Bruce Korf, André Leier, Miranda L McManus, Herb Sarnoff, Jeremie Vitte, James A Walker, Scott R Plotkin, Deeann Wallis
Numerous successful gene-targeted therapies are arising for the treatment of a variety of rare diseases. At the same time, current treatment options for neurofibromatosis 1 and schwannomatosis are limited and do not directly address loss of gene/protein function. In addition, treatments have mostly focused on symptomatic tumors, but have failed to address multisystem involvement in these conditions. Gene-targeted therapies hold promise to address these limitations. However, despite intense interest over decades, multiple preclinical and clinical issues need to be resolved before they become a reality...
November 8, 2023: Clinical Trials: Journal of the Society for Clinical Trials
#30
REVIEW
Rebecca Brown
Neurofibromatosis type I (NF1), neurofibromatosis type 2 (NF2), and schwannomatosis represent a diverse group of genetic tumor predisposition syndromes with a shared feature of tumors affecting the peripheral nerve sheaths. PURPOSE OF REVIEW: Many advancements have been made in understanding the biologic underpinnings of these conditions, and in 2016 the first drug was approved by the FDA to treat pediatric symptomatic unresectable plexiform neurofibromas. RECENT FINDINGS: Mek inhibitors have provided a much-needed therapeutic avenue for NF1 patients with unresectable plexiform neurofibromas (PN), both for reduction of tumor bulk and for improvement in symptoms...
December 2023: Current Oncology Reports
#31
JOURNAL ARTICLE
R Taylor Sundby, Steven D Rhodes, Edina Komlodi-Pasztor, Herb Sarnoff, Vito Grasso, Meena Upadhyaya, AeRang Kim, D Gareth Evans, Jaishri O Blakeley, C Oliver Hanemann, Chetan Bettegowda
INTRODUCTION: Neurofibromatosis 1 and schwannomatosis are characterized by potential lifelong morbidity and life-threatening complications. To date, however, diagnostic and predictive biomarkers are an unmet need in this patient population. The inclusion of biomarker discovery correlatives in neurofibromatosis 1/schwannomatosis clinical trials enables study of low-incidence disease. The implementation of a common data model would further enhance biomarker discovery by enabling effective concatenation of data from multiple studies...
October 31, 2023: Clinical Trials: Journal of the Society for Clinical Trials
#32
Cristina Fernandez-Valle, Anna Nagel, Julianne Huegel, Alejandra Petrilli, Rosa Rosario, Berta Victoria, Haley Hardin
Neurofibromatosis Type 2 (NF2)-related schwannomatosis is a genetic disorder that causes development of multiple types of nervous system tumors. The primary and diagnostic tumor type is bilateral vestibular schwannoma. There is no cure or drug therapy for NF2. Recommended treatments include surgical resection and radiation, both of which can leave patients with severe neurological deficits or increase the risk of future malignant tumors. Results of our previous pilot high-throughput drug screen identified phosphoinositide 3-kinase (PI3K) inhibitors as strong candidates based on loss of viability of mouse merlin-deficient Schwann cells (MD-SCs)...
October 16, 2023: Research Square
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JOURNAL ARTICLE
James R Dornhoffer, Aaron R Plitt, Christine M Lohse, Colin L W Driscoll, Brian A Neff, Aniket A Saoji, Jamie J Van Gompel, Michael J Link, Matthew L Carlson
OBJECTIVE: To compare cochlear implant (CI) and auditory brainstem implant (ABI) performance in patients with NF2-related schwannomatosis (NF2). STUDY DESIGN: Historical cohort. SETTING: Tertiary academic center. PATIENTS: A total of 58 devices among 48 patients were studied, including 27 ABIs implanted from 1997 to 2022 and 31 CIs implanted from 2003 to 2022. Three patients had bilateral ABIs, three had bilateral CIs, three had an ABI on one side and a CI on the other, one had a CI that was later replaced with an ipsilateral ABI, and one had an ABI and CI concurrently on the same side...
October 25, 2023: Otology & Neurotology
#34
JOURNAL ARTICLE
Matthieu Peyre, Julien Gaudric, Isabelle Bernat, Arthur André, Thibault Couture, Michel Kalamarides
Pelvic schwannomas are rare tumors that may occur either sporadically or in the context of schwannomatosis. We retrospectively reviewed the charts of patients harboring a pelvic schwannoma under conservative management or operated at our reference center between 2016 and 2023. All patients were operated by a multidisciplinary team, combining a vascular surgeon and a neurosurgeon. Twenty-four patients harboring 33 pelvic tumors were included in the cohort, including 12 patients with sporadic lesions, 2 patients with NF2-related schwannomatosis, and 10 patients with NF2-independent schwannomatosis...
October 19, 2023: Neurosurgical Review
#35
JOURNAL ARTICLE
Joseph S Bell, Ulrich Batzdorf, Langston T Holly
This video depicts the resection of three separate intradural extramedullary spinal tumors performed under the same anesthetic. Neuromonitoring was used to identify motor nerve roots, and laminoplasty was performed at the thoracolumbar junction to preserve alignment and minimize the risk of postoperative CSF leak.
October 2023: Neurosurgical focus: Video
#36
JOURNAL ARTICLE
Patrick Debs, Rodrigo Luna, Laura M Fayad, Shivani Ahlawat
OBJECTIVES: To compare MRI features of sporadic and neurofibromatosis syndrome-related localized schwannomas and neurofibromas. METHODS: In this retrospective study, our pathology database was searched for "neurofibroma" or "schwannoma" from 2014 to 2019. Exclusion criteria were lack of available MRI and intradural or plexiform tumors. Qualitative and quantitative anatomic (location, size, relationship to nerve, signal, muscle denervation) and functional (arterial enhancement, apparent diffusion-weighted coefficient) MRI features of sporadic and syndrome-related tumors were compared...
October 16, 2023: Skeletal Radiology
#37
JOURNAL ARTICLE
M J Webb, Bryan J Neth, Lauren M Webb, Jamie J Van Gompel, Michael J Link, Brian A Neff, Matthew L Carlson, Colin L Driscoll, Jim Dornhoffer, Michael W Ruff, Kelsey A Anderson, Sani H Kizilbash, Jian L Campian, Joon H Uhm, Jack I Lane, John C Benson, Daniel J Blezek, Parv M Mehta, Girish Bathla, Ugur T Sener
BACKGROUND: Neurofibromatosis type 2 (NF2)-related schwannomatosis is an autosomal dominant tumor-predisposition syndrome characterized by bilateral vestibular schwannomas (VS). In patients with VS associated with NF2, vascular endothelial growth factor A inhibitor, bevacizumab, is a systemic treatment option. The aim of this study is to retrospectively evaluate NF2 patient responses to bevacizumab on VS growth and symptom progression. METHODS: This is a retrospective analysis of patients seen at the Mayo Clinic Rochester Multidisciplinary NF2 Clinic...
2023: Neuro-oncology advances
#38
JOURNAL ARTICLE
E S Makashova, S V Zolotova, O V Absalyamova, M V Galkin, A V Petrokovskaya, A V Kozlov, A V Golanov
Schwannomatoses is a new classification unit for all the hereditary diseases caused by chromosome 22 damage followed by multiple benign neoplasms of the peripheral and central nervous system. Schwannomatosis occurs as a result of damage to different genes: NF2, SMARCB1, LZRT1, loss of heterozygosity of the long arm of chromosome 22. Nevertheless, clinical manifestations are similar. Molecular diagnostics not only confirms the diagnosis, but also predicts the course of disease. Thus, the most severe clinical manifestations are observed in patients with violation of semantic sequences and reading frame shift in exons 2-13 of the NF2 gene...
2023: Zhurnal Voprosy Neĭrokhirurgii Imeni N. N. Burdenko
#39
JOURNAL ARTICLE
Merryl Terry, Rohit Gupta, Ajay Ravindranathan, Jasper Wu, Emily Chan, Andrew W Bollen, Susan M Chang, Mitchel S Berger, Line Jacques, David A Solomon
No abstract text is available yet for this article.
December 2023: Acta Neuropathologica
#40
REVIEW
Martin Planet, Michel Kalamarides, Matthieu Peyre
PURPOSE OF REVIEW: In 2022, an international consensus recommendation revised the nomenclature for neurofibromatosis type 2 ( NF2 ) and Schwannomatosis (SWN), now grouped under the umbrella term Schwannomatosis, and defined new diagnostic criteria. RECENT FINDINGS: This review describes the molecular criteria for diagnosis of schwannomatosis and the subsequent diagnosis strategy, while setting out the most recent advances in our understanding of the natural history, pathology, molecular biology and treatment of schwannomatosis-associated tumors, including schwannomas, meningiomas and ependymomas...
November 1, 2023: Current Opinion in Oncology
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