Bilateral intracochlear schwannomas in a  patient with no genetic or clinical features of neurofibromatosis type 2.

This report describes the first case of bilateral sporadic intracochlear schwannomas in a patient with no genetic or clinical features of NF2. PMID: 31598774 [PubMed - as supplied by publisher]
Source: HNO - Category: ENT & OMF Tags: HNO Source Type: research

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(Children's Tumor Foundation) The Children's Tumor Foundation (CTF), an innovative and global neurofibromatosis research foundation announced today a collaboration with DELopen, a DNA-encoded library technology platform sponsored by WuXi AppTec, a leading global provider of R&D and manufacturing services enabling companies in the pharmaceutical, biotechnology and medical device industries. DELopen will provide researchers free access to billions of molecules to seek insights into and develop therapies for the treatment of NF under grants covered by CTF's Discovery Fund.
Source: EurekAlert! - Medicine and Health - Category: International Medicine & Public Health Source Type: news
CONCLUSIONS: Cutaneous vasculopathy related to the skin, such as livedo reticularis and ulcers of torpid evolution due to cutaneous vasculopathy are extremely rare. Thus, it is necessary to include skin ulcers as one of the phenotypic manifestations of NF-1. PMID: 31730516 [PubMed - in process]
Source: Wounds - Category: General Medicine Tags: Wounds Source Type: research
CONCLUSIONS: Both STX3451 and STX2895 provide new approaches for inducing cell death and lowering tumour burden in NF2 as well as in NF1, which both have limited treatment options. PMID: 31730023 [PubMed - in process]
Source: BMC Pharmacology and Toxicology - Category: Drugs & Pharmacology Tags: BMC Pharmacol Toxicol Source Type: research
Publication date: March 2020Source: Interdisciplinary Neurosurgery, Volume 19Author(s): Adrian Kelly, Patrick Lekgwara, Aftab YounusAbstractSpinal schwannomas originate from Schwann cells and as a group represent 30% of spinal cord tumors. These lesions are commonly intra-dural extramedullary in location and in fact purely intramedullary schwannomas of the spinal cord represent only 1.1% of spinal schwannomas. Almost all of these occur in patients with Neurofibromatosis. Approximately 50 cases of intramedullary schwannomas not related to neurofibromatosis have been described to date.This case report gives an account of a y...
Source: Interdisciplinary Neurosurgery - Category: Neurosurgery Source Type: research
Neurofibromatosis 1 and 2, although involving two different tumour suppressor genes (neurofibromin and merlin, respectively), are both cancer predisposition syndromes that disproportionately affect cells of ne...
Source: BMC Clinical Pharmacology - Category: Drugs & Pharmacology Authors: Tags: Research article Source Type: research
Neurofibromatosis type 1 (NF1) is characterized by an extreme clinical variability both within and between families that cannot be explained solely by the nature of the pathogenic NF1 gene mutations. A proposed m...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Tags: Research Source Type: research
This study suggests that features of Tuberous sclerosis especially when overlapping with those of Neurofibromatosis 1 or malignancies atypical for these syndromes should raise the possibility of constitutional mismatch repair deficiency. Correct diagnosis is essential for appropriate genetic counselling and pre-emptive cancer surveillance. This article is protected by copyright. All rights reserved. PMID: 31730237 [PubMed - as supplied by publisher]
Source: Clinical Genetics - Category: Genetics & Stem Cells Authors: Tags: Clin Genet Source Type: research
KENILWORTH, N.J.--(BUSINESS WIRE)--AstraZeneca and Merck (NYSE:MRK), known as MSD outside the United States and Canada, today announced that the U.S. Food and Drug Administration (FDA) has accepted a New Drug Application (NDA) and granted priority...
Source: Drugs.com - New Drug Applications - Category: Drugs & Pharmacology Source Type: news
(Children's Tumor Foundation) The FDA granted acceptance to file status for selumetinib, for use in patients with plexiform neurofibromas, a common manifestation in neurofibromatosis type one (NF1). This is a key milestone for becoming the first approved treatment for NF. This follows previous designations granting orphan drug status as well as breakthrough status, and enters the drug into the FDA's approval pipeline. The FDA also granted priority review, and a PDUFA has been set for Q2 of 2020.
Source: EurekAlert! - Medicine and Health - Category: International Medicine & Public Health Source Type: news
nti Eva Trevisson Type 1 neurofibromatosis (NF1) is a dominantly inherited condition predisposing to tumor development. Optic pathway glioma (OPG) is the most frequent central nervous system tumor in children with NF1, affecting approximately 15–20% of patients. The lack of well-established prognostic markers and the wide clinical variability with respect to tumor progression and visual outcome make the clinical management of these tumors challenging, with significant differences among distinct centers. We reviewed published articles on OPG diagnostic protocol, follow-up and treatment in NF1. Cohorts of NF1...
Source: Cancers - Category: Cancer & Oncology Authors: Tags: Review Source Type: research
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