Neurofibromatosis Research This is an RSS file. You can use it to subscribe to this data in your favourite RSS reader or to display this data on your own website or blog.

Impact of trametinib on the neuropsychological profile of NF1 patients
ConclusionThese preliminary results show a potential positive effect of trametinib on cognition in patients with NF1. We observed significant improvements in processing speed, visuo-motor and verbal abilities. This study demonstrates the importance of including neuropsychological evaluations into clinical trial when using MEK inhibitors for patients with NF1. (Source: Journal of Neuro-Oncology)
Source: Journal of Neuro-Oncology - March 5, 2024 Category: Cancer & Oncology Source Type: research

Cutaneous toxicities of mitogen-activated protein kinase inhibitors in children and young adults with neurofibromatosis-1
ConclusionsImprovement in characterization of MEKi toxicities and their management is important to develop treatment guidelines for pediatric and young adult patients with NF1 on MEKi therapy. (Source: Journal of Neuro-Oncology)
Source: Journal of Neuro-Oncology - March 5, 2024 Category: Cancer & Oncology Source Type: research

Cancers, Vol. 16, Pages 994: The NF1+/- Immune Microenvironment: Dueling Roles in Neurofibroma Development and Malignant Transformation
des Neurofibromatosis type 1 (NF1) is a common genetic disorder resulting in the development of both benign and malignant tumors of the peripheral nervous system. NF1 is caused by germline pathogenic variants or deletions of the NF1 tumor suppressor gene, which encodes the protein neurofibromin that functions as negative regulator of p21 RAS. Loss of NF1 heterozygosity in Schwann cells (SCs), the cells of origin for these nerve sheath-derived tumors, leads to the formation of plexiform neurofibromas (PNF)&mdash;benign yet complex neoplasms involving multiple nerve fascicles and comprised of a myriad of infiltra...
Source: Cancers - February 29, 2024 Category: Cancer & Oncology Authors: Emily E. White Steven D. Rhodes Tags: Review Source Type: research

MYCN immunohistochemistry as surrogate marker for MYCN-amplified spinal ependymomas
AbstractMYCN (master regulator of cell cycle entry and proliferative metabolism) gene amplification defines a molecular subgroup of spinal cord ependymomas that show high-grade morphology and aggressive behavior. Demonstration ofMYCN amplification by DNA methylation or fluorescence-in situ hybridization (FISH) is required for diagnosis. We aimed to (i) assess prevalence and clinicopathological features ofMYCN-amplified spinal ependymomas and (ii) evaluate utility of immunohistochemistry (IHC) for MYCN protein as a surrogate for molecular testing. A combined retrospective –prospective study spanning 8 years was designed ...
Source: Human Cell - February 27, 2024 Category: Cytology Source Type: research

Diverse learners: learning disabilities and quality of life following mind –body and health education interventions for adults with neurofibromatosis
ConclusionAdults with NF and learning disabilities have lower Psychological and Environmental QoL. While interventions show promise in improving QoL regardless of learning disabilities, additional measures may bolster clinical benefit and sustainability among those with learning disabilities. (Source: Journal of Neuro-Oncology)
Source: Journal of Neuro-Oncology - February 27, 2024 Category: Cancer & Oncology Source Type: research

The management of Neurofibromatosis type 1 (NF1) in children and adolescents
Expert Rev Neurother. 2024 Feb 26. doi: 10.1080/14737175.2024.2324117. Online ahead of print.ABSTRACTINTRODUCTION: Neurofibromatosis type 1 (NF1) is a rare neurogenetic disorder characterized by multiple organ system involvement and a predisposition to the development of benign and malignant tumors. With revision of the clinical criteria for NF1 and the availability of germline genetic testing, there is now an opportunity to render an early diagnosis, expedite medical surveillance, and initiate treatment in a prompt and targeted manner.AREAS COVERED: Given the complexity and clinical variability inherent to NF1, the author...
Source: Expert Review of Neurotherapeutics - February 26, 2024 Category: Neurology Authors: Nino Kerashvili David H Gutmann Source Type: research

Patient characteristics, treatment patterns, healthcare resource utilization, and costs among patients diagnosed with neurofibromatosis type 1 with and without plexiform neurofibromas in Japan
CONCLUSIONS: NF1 is treated primarily with supportive care with analgesics/non-steroidal anti-inflammatory drugs being the most frequently prescribed NF1 medications in Japan. Findings underscored the unmet need and substantial economic burden among patients with NF1 and highlighted the need for new treatment options for patients with this disease.PMID:38404173 | DOI:10.1080/03007995.2024.2322698 (Source: Current Medical Research and Opinion)
Source: Current Medical Research and Opinion - February 26, 2024 Category: Research Authors: Yuichi Yoshida Keiichi Tozawa Ryo Koto Chikako Iwao Yong-Jin Kim Lu Ban Volkan Barut Source Type: research

The management of neurofibromatosis type 1 (NF1) in children and adolescents
Expert Rev Neurother. 2024 Feb 27:1-12. doi: 10.1080/14737175.2024.2324117. Online ahead of print.ABSTRACTINTRODUCTION: Neurofibromatosis type 1 (NF1) is a rare neurogenetic disorder characterized by multiple organ system involvement and a predisposition to benign and malignant tumor development. With revised NF1 clinical criteria and the availability of germline genetic testing, there is now an opportunity to render an early diagnosis, expedite medical surveillance, and initiate treatment in a prompt and targeted manner.AREAS COVERED: The authors review the spectrum of medical problems associated with NF1, focusing specif...
Source: Expert Review of Neurotherapeutics - February 26, 2024 Category: Neurology Authors: Nino Kerashvili David H Gutmann Source Type: research