Whole-Body Positron Emission Tomography with 18F-Fluorodeoxyglucose/Magnetic Resonance Imaging as a Screening Tool for the Detection of Malignant Transformation in Individuals with Neurofibromatosis Type 1
Malignant peripheral nerve sheath tumors (MPNSTs) are the leading cause of death in patients with neurofibromatosis type 1. They can result from premalignant neurofibromas, including neurofibromas with atypia and atypical neurofibromatous neoplasms of uncertain biologic potential. Some phenotypic characteristics have been described as associated with their development. The aim of this study was to outline our use of whole-body positron emission tomography with 18F-fluorodeoxyglucose/magnetic resonance imaging in adults with neurofibromatosis type 1, especially in the screening of asymptomatic individuals with a higher risk...
Source: Journal of Investigative Dermatology - February 16, 2024 Category: Dermatology Authors: Laura Fertitta, Arnaud Jannic, Ouidad Zehou, Christina Bergqvist, Salah Ferkal, Sabine Moryousef, Lionel Lerman, S ébastien Mulé, Alain Luciani, Blanche Bapst, Khaled Ezzedine, Nicolas Ortonne, Emmanuel Itti, Pierre Wolkenstein Tags: Original Article Source Type: research
Challenges in treating children with optic pathway gliomas: an 18-year experience from a middle-income country
ConclusionOur data suggests that favorable outcomes can be achieved with OPG in low- and middle-income countries, although a high rate of surgical complications was described leading to a lower overall survival. These data can be used prospectively to optimize treatment at this institute and other middle-income countries through a comprehensive, multidisciplinary approach. (Source: Frontiers in Oncology)
Source: Frontiers in Oncology - February 14, 2024 Category: Cancer & Oncology Source Type: research
Pediatric spinal ependymoma with chromothripsis of chromosome 6: a case report and review of the literature
ConclusionThis case adds to the existing literature of pediatric patients with spinal ependymomas and expands the cytogenetic findings that may be seen in patients with this tumor type. This case also highlights the value of cytogenetics and microarray analysis in solid tumors to provide a more accurate molecular diagnosis. (Source: Journal of Medical Case Reports)
Source: Journal of Medical Case Reports - February 14, 2024 Category: General Medicine Source Type: research
Acquired myelinated retinal nerve fiber layer in a child with neurofibromatosis 1 –related optic pathway glioma
Myelinated retinal nerve fiber layer (RNFL) is a rare structural anomaly that occurs from abnormal myelination extending anterior to the lamina cribrosa. Clinically, myelinated RNFL is characterized as a gray-white lesion with feathered, well-demarcated borders obscuring the retinal vasculature. Myelinated RNFL is typically congenital, benign, and asymptomatic. It is most commonly noted as an incidental finding on ophthalmic examination. However, cases of acquired myelinated RNFL have been reported. (Source: Journal of AAPOS)
Source: Journal of AAPOS - February 13, 2024 Category: Opthalmology Authors: Kevin K. Min, Agnes M.F. Wong, Michael J. Wan Tags: Short Report Source Type: research
Acquired myelinated retinal nerve fiber layer in a child with neurofibromatosis 1–related optic pathway glioma
Myelinated retinal nerve fiber layer (RNFL) is a rare structural anomaly that occurs from abnormal myelination extending anterior to the lamina cribrosa. Clinically, myelinated RNFL is characterized as a gray-white lesion with feathered, well-demarcated borders obscuring the retinal vasculature. Myelinated RNFL is typically congenital, benign, and asymptomatic. It is most commonly noted as an incidental finding on ophthalmic examination. However, cases of acquired myelinated RNFL have been reported. (Source: Journal of AAPOS)
Source: Journal of AAPOS - February 13, 2024 Category: Opthalmology Authors: Kevin K. Min, Agnes M.F. Wong, Michael J. Wan Tags: Short Report Source Type: research
Association of plexiform and diffuse neurofibromas with malignant peripheral nerve sheath tumor in NF I patients: a whole-body MRI assessment
ConclusionThis study suggests the absence of a predisposition for development of MPNST from pNFs and dNFs in the setting of NF1. As such, these lesions may not need special surveillance compared to discrete peripheral nerve sheath tumors. (Source: Skeletal Radiology)
Source: Skeletal Radiology - February 10, 2024 Category: Radiology Source Type: research
MRI features of benign peripheral nerve sheath tumors: how do sporadic and syndromic tumors differ?
ConclusionsAlthough syndrome-related and sporadic schwannomas and neurofibromas overlap in their anatomic, diffusion and perfusion features, signal heterogeneity and presence of multiple lesions along a nerve are differentiating characteristics of syndrome-related tumors. (Source: Skeletal Radiology)
Source: Skeletal Radiology - February 10, 2024 Category: Radiology Source Type: research
Simultaneous inhibition of PI3K and PAK in preclinical models of neurofibromatosis type 2-related schwannomatosis
Oncogene, Published online: 09 February 2024; doi:10.1038/s41388-024-02958-wSimultaneous inhibition of PI3K and PAK in preclinical models of neurofibromatosis type 2-related schwannomatosis (Source: Oncogene)
Source: Oncogene - February 9, 2024 Category: Cancer & Oncology Authors: Anna Nagel Julianne Huegel Alejandra Petrilli Rosa Rosario Berta Victoria Haley M Hardin Cristina Fernandez-Valle Source Type: research
Patient-reported measures of tinnitus for individuals with neurofibromatosis type 2-related schwannomatosis: Recommendations for clinical trials
DISCUSSION: Response Evaluation in Neurofibromatosis and Schwannomatosis currently recommends the Tinnitus Functional Index for the assessment of tinnitus in neurofibromatosis type 2 clinical trials.PMID:38321701 | PMC:PMC10865763 | DOI:10.1177/17407745231217279 (Source: Clinical Trials)
Source: Clinical Trials - February 7, 2024 Category: Research Authors: Heather L Thompson Jane Grabowski Barbara Franklin Kimberley S Koetsier D Bradley Welling Source Type: research
Patient-reported measures of tinnitus for individuals with neurofibromatosis type 2-related schwannomatosis: Recommendations for clinical trials
DISCUSSION: Response Evaluation in Neurofibromatosis and Schwannomatosis currently recommends the Tinnitus Functional Index for the assessment of tinnitus in neurofibromatosis type 2 clinical trials.PMID:38321701 | PMC:PMC10865763 | DOI:10.1177/17407745231217279 (Source: Clinical Trials)
Source: Clinical Trials - February 7, 2024 Category: Research Authors: Heather L Thompson Jane Grabowski Barbara Franklin Kimberley S Koetsier D Bradley Welling Source Type: research
Patient-reported measures of tinnitus for individuals with neurofibromatosis type 2-related schwannomatosis: Recommendations for clinical trials
DISCUSSION: Response Evaluation in Neurofibromatosis and Schwannomatosis currently recommends the Tinnitus Functional Index for the assessment of tinnitus in neurofibromatosis type 2 clinical trials.PMID:38321701 | PMC:PMC10865763 | DOI:10.1177/17407745231217279 (Source: Clinical Trials)
Source: Clinical Trials - February 7, 2024 Category: Research Authors: Heather L Thompson Jane Grabowski Barbara Franklin Kimberley S Koetsier D Bradley Welling Source Type: research
Written language achievement in children and adolescents with neurofibromatosis type 1 and Plexiform Neurofibromas
Child Neuropsychol. 2024 Feb 6:1-21. doi: 10.1080/09297049.2024.2307663. Online ahead of print.ABSTRACTNeurofibromatosis type 1 (NF1) is associated with below average writing achievement. However, little is known about specific aspects of written language impacted by NF1, changes in writing over time, and associations between cognitive aspects of the NF1 phenotype and writing. At three timepoints over six years, children with NF1 and plexiform neurofibromas (PNs) completed Woodcock-Johnson tests of writing mechanics (Spelling, Punctuation & Capitalization, handwriting), written expression of ideas (Writing Samples), wr...
Source: Child Neuropsychology - February 6, 2024 Category: Child Development Authors: Atara Siegel Mary Anne Toledo-Tamula Staci Martin Andy Gillespie Anne Goodwin Brigitte Widemann Pamela L Wolters Source Type: research
Audiometric Outcomes of Auditory Brainstem Implantation during Vestibular Schwannoma Resection in NF2 Patients
Conclusion Nine of 11 patients derived benefits from ABI placement. These findings demonstrate that ABI placement during concurrent VS resection can provide a significant hearing benefit for NF2 patients. [...] Georg Thieme Verlag KG Rüdigerstraße 14, 70469 Stuttgart, GermanyArticle in Thieme eJournals: Table of contents | Abstract | Full text (Source: Journal of Neurological Surgery Part B: Skull Base)
Source: Journal of Neurological Surgery Part B: Skull Base - January 29, 2024 Category: Neurosurgery Authors: de Cos, V íctor Gibson, Madeline Li, Vivienne La Monte, Olivia Moshtaghi, Omid Dixon, Peter Khan, Usman Friedman, Rick Schwartz, Marc S. Tags: Original Article Source Type: research
Genetic characterization and mutational profiling of foramen magnum meningiomas: a multi-institutional study
CONCLUSIONS: These findings provide important insights into the molecular genetics and clinicopathological characteristics of FM meningiomas. The identification of specific genetic alterations associated with tumor location, volume, calcification, histology, and sex at diagnosis may have implications for personalized treatment strategies in the future.PMID:38277657 | DOI:10.3171/2023.11.JNS231936 (Source: Journal of Neurosurgery)
Source: Journal of Neurosurgery - January 26, 2024 Category: Neurosurgery Authors: Lingyang Hua Majd Alkhatib Shingo Fujio Boshr Alhasan Sylvia Herold Silke Zeugner Amir Zolal Mido M Hijazi Victoria E Clark Hiroaki Wakimoto Ganesh M Shankar Priscilla K Brastianos Frederick G Barker Daniel P Cahill Leihao Ren Ilker Y Ey üpoglu Ye Gong G Source Type: research
Characteristics of MicroRNA Expression Depending on the Presence or Absence of Meningioma in Patients with Neurofibromatosis Type 2: A Secondary Analysis
In conclusion, we identified different circulating miRNA expression characteristics depending on the presence or absence of meningioma in patients with NF2.PMID:38267057 | DOI:10.2176/jns-nmc.2023-0200 (Source: Neurologia Medico-Chirurgica)
Source: Neurologia Medico-Chirurgica - January 24, 2024 Category: Neurosurgery Authors: Takeshi Imura Takafumi Mitsuhara Nobutaka Horie Source Type: research
