Results 81 to 90 of about 4,213 (222)

Trametinib in Adults with Neurofibromatosis Type 1‐Related Symptomatic Plexiform Neurofibromas

Annals of Neurology, Volume 99, Issue 1, Page 73-83, January 2026.
Objective Mitogen‐activated protein kinase kinase inhibitors have shown promising results in treatment of plexiform neurofibromas in neurofibromatosis type 1 patients, but data in adults are limited. The aim of this phase 2 study was to investigate the efficacy and safety of trametinib in adults with neurofibromatosis type 1.
D. Christine Noordhoek, David F. Hanff, Pim J. French, Sarah A. van Dijk, Erik A.C. Wiemer, Olivier C. Manintveld, Martin J. van den Bent, Walter Taal   +7 more
wiley   +1 more source

Creation of an international registry to support discovery in schwannomatosis [PDF]

, 2016
Schwannomatosis is a tumor suppressor syndrome that causes multiple tumors along peripheral nerves. Formal diagnostic criteria were first published in 2005.
Belzberg, A J, Bergner, A L, Blakeley, J, Evans, Gareth, Ferner, R, Friedman, J M, Harris, G J, Jordan, J T, Korf, B, Langmead, S, Leschziner, G, Mautner, V, Merker, V L, Ostrow, K L, Papi, L, Plotkin, S R, Slopis, J M, Smith, Miriam J, Stemmer-Rachamimov, A, Yohay, K   +19 more
core   +2 more sources

Schwannomatosis

Romanian Neurosurgery
Schwannomatosis is characterized by a predisposition to develop multiple schwannomas and rarely meningiomas. People with schwannomatosis are most commonly present between the second and fourth decades of life. The most common feature is localized or diffuse pain or an asymptomatic mass. Schwannomas most commonly involve peripheral and spinal nerves. We
Younes Dehneh, Hamid Khay, Mohamed Khoulali, Moufid Faycal   +3 more
openaire   +1 more source

Schwannomatosis of the tibial nerve

International Journal of Research in Orthopaedics, 2021
<p class="abstract">Schwannoma is the most common type of benign tumor arising from the sheaths of the peripheral nerves. It occurs as a solitary tumor in most cases, but when it appears in multiple forms, it is necessary to differentiate it from plexiform schwannoma, schwannomatosis, neurofibroma and malignant peripheral nerve tumors.
Jin Woo Jin, Sung Jin Shin, Tae Hyeon Park   +2 more
openaire   +2 more sources

Comprehensive Genetic Analysis of NF2 in Sporadic Vestibular Schwannoma

Laryngoscope Investigative Otolaryngology, Volume 10, Issue 5, October 2025.
Comprehensive genetic analyses, including whole‐exome sequencing, methylation analysis, and MLPA, are essential for accurately identifying NF2 inactivation mechanisms in sporadic vestibular schwannomas. The findings suggest that NF2 methylation may contribute to variations in clinical presentation.
Takeshi Wakabayashi, Koichiro Wasano, Kohei Nakamura, Makoto Hosoya, Ryutaro Kawano, Reika Takamatsu, Masafumi Ueno, Marie N. Shimanuki, Nobuyoshi Tsuzuki, Takanori Nishiyama, Takenori Akiyama, Masahiro Toda, Hiroshi Nishihara, Hiroyuki Ozawa, Naoki Oishi   +14 more
wiley   +1 more source

Visual outcome including visual field defects after treatment of paediatric optic pathway glioma: A nationwide cohort study

Acta Ophthalmologica, Volume 103, Issue 6, Page 662-673, September 2025.
Abstract Purpose To examine long‐term visual impairment and visual field examination (VF) after diverse treatments for paediatric optic pathway glioma (OPG), and to determine prognostic factors for long‐term severe visual impairment or blindness. Methods A nationwide retrospective cohort study (1995–2018) was performed on paediatric OPGs that received ...
C. A. M. Bennebroek, J. van Zwol, M. C. Montauban van Swijndregt, S. E. Loudon, A. L. W. Groot, N. J. C. Bauer, J. W. Pott, I. C. Notting, A. J. van Sorge, M. M. van Genderen, P. de Graaf, A. Y. N. Schouten‐van Meeteren, P. Saeed, G. L. Porro   +13 more
wiley   +1 more source

Clinician Perspectives of a Magnetic Resonance Imaging-Based 3D Volumetric Analysis Tool for Neurofibromatosis Type 2-Related Schwannomatosis: Qualitative Pilot Study.

JMIR Hum Factors
Background Accurate monitoring of tumor progression is crucial for optimizing outcomes in neurofibromatosis type 2–related schwannomatosis. Standard 2D linear analysis on magnetic resonance imaging is less accurate than 3D volumetric analysis, but since ...
Desroches ST, Huang A, Ghankot R, Tommasini SM, Wiznia DH, Buono FD.   +5 more
europepmc   +2 more sources

Neurofibromatosis type 2 (NF 2) or schwannomatosis? – Case report study and diagnostic criteria [PDF]

, 1970
Introduction Neurofibromatosis type 2 (NF2) and schwannomatosis are entities that may, due to the similarity of clinical symptoms, cause diagnostic difficulties. Incidence rate of both diseases is similar and estimated between 1:25,000 and 1:40,000.
Błaszczyk, Maciej, Radek, Andrzej, Radek, Maciej, Snopkowska-Wiaderna, Dorota, Tomasik, Bartłomiej, Wojdyn, Maciej   +5 more
core   +2 more sources

Pseudoglandular Schwannoma With FUS::KLF17 Fusion: Broadening the Spectrum of FUS‐Associated Tumors

Genes, Chromosomes and Cancer, Volume 64, Issue 8, August 2025.
ABSTRACT We present a case of a 51‐year‐old male with a pseudoglandular cellular schwannoma arising from the brachial plexus, which contains the expected molecular aberrations for a schwannoma (chromosome 22q loss encompassing the NF2 and LZTR1 genes) as well as a FUS::KLF17 rearrangement.
Jerome Givi, Daisy Wu, Rania Bakkar, Michelle Afkhami, Diana Bell   +4 more
wiley   +1 more source

Changes in multi‐gene cancer panels for children: A 4‐year retrospective review

Journal of Genetic Counseling, Volume 34, Issue 4, August 2025.
Abstract The multi‐gene panel is the most utilized genetic test to evaluate for germline cancer predisposition syndromes. However, the rate of change of commercial multigene panels is not well understood, and its value as a standalone test has also not been investigated.
Elise G. Williams, Elena Kessler, Kristine L. Cooper, Andrea Durst, Julia Meade   +4 more
wiley   +1 more source