Advances in Molecular Diagnosis of Neurofibromatosis Type 1

Neurofibromatosis 1 (NF1) is a common neurocutaneous and tumor predisposing genetic disorder with an autosomal dominant mode of inheritance. NF1 is solely caused by mutations in the NF1 gene, and disease-causing mutations can be found in more than 95% of individuals with a clinical diagnosis. While NF1 has a distinctive clinical phenotype, it has a highly variable expression, even among individuals from the same family. Identifying the specific mutation does not usually assist in determining disease course and severity, and relatively few genotype-phenotype correlations have thus far been found.
Source: Seminars in Pediatric Neurology - Category: Neurology Authors: Source Type: research

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CONCLUSIONS: Occurrence of both diseases in one patient is extremely rare, but the common origin of Schwann cells and melanoblasts suggests a non-casual association. Therefore, we propose that NF1 patients should be screened for nevi, both cutaneous and uveal, for better patients' management. PMID: 32064917 [PubMed - as supplied by publisher]
Source: European Journal of Ophthalmology - Category: Opthalmology Authors: Tags: Eur J Ophthalmol Source Type: research
AbstractMultiple Endocrine Neoplasia (MEN) type 4 is a rare genetic condition that results from variants of theCDKN1B gene and predisposes individuals to develop endocrine tumors. Spinal neurofibromatosis (SNF) is an uncommon subtype of neurofibromatosis type 1 (NF1) characterized by bilateral neurofibromas of all spinal roots. Here we report a case of the co-occurrence of these syndromes, which has not yet been described in the literature. A male in his 60s presented with Gleason 5  + 4 localized prostate adenocarcinoma treated with radical prostatectomy. Two years later, he developed liver and bone metastas...
Source: Familial Cancer - Category: Cancer & Oncology Source Type: research
Abstract Introduction: Vestibular schwannoma (VS) is a slow-growing, benign tumor that is usually diagnosed when symptoms develop. Surgical management aims to reduce long-term sequelae (LTS) associated with late diagnosis.Objective: Identify predictive factors of LTS after VS surgery and clinical outcome measured by modified Rankin scale (mRS).Methods: This cohort study included patients submitted to VS surgery from 1999 to 2014, with a mean follow-up of 6.4 ± 4.5 years. Disability was assessed across the mRS the primary outcome was defined by scores 3 to 6, which implied poor outcome i...
Source: Acta Oto-Laryngologica - Category: ENT & OMF Authors: Tags: Acta Otolaryngol Source Type: research
Authors: Ferreira S, Selores M, Torres T PMID: 32035502 [PubMed - in process]
Source: Acta Medica Portuguesa - Category: General Medicine Tags: Acta Med Port Source Type: research
CONCLUSION: The increase in ADC and reduction in FA in the auditory pathways of patients with NF1 may suggest microstructural alterations, such as a decrease in the number of axons, edema or inflammation in the auditory tracts. PMID: 32008535 [PubMed - in process]
Source: Current Medical Imaging Reviews - Category: Radiology Tags: Curr Med Imaging Rev Source Type: research
AbstractStereotactic radiosurgery (SRS) is currently the most common treatment for small- to medium-size vestibular schwannoma (VS). Despite favorable outcome, hearing deterioration still remains an underestimated problem, and the role of hearing rehabilitation is an underinvestigated topic. Among available technologies, cochlear implant (CI) should represent a valid alternative in sporadic VS with single-sided deafness and in neurofibromatosis (NF2) with bilateral profound hearing loss. A literature review of the current clinical data was performed searching scientific literature databases. From all of the articles found,...
Source: Neurosurgical Review - Category: Neurosurgery Source Type: research
Source: Indian Journal of Pediatrics - Category: Pediatrics Source Type: research
Abstract The genetic architecture of neurodevelopmental disorders is largely polygenic, non-specific, and pleiotropic. This complex genetic architecture makes the search for specific etiological mechanisms that contribute to neurodevelopmental risk more challenging. Monogenic disorders provide an opportunity to focus in on how well-articulated signaling pathways contribute to risk for neurodevelopmental outcomes. This paper will focus on neurofibromatosis type 1 (NF1), a rare monogenic disorder that is associated with varied neurodevelopmental outcomes. Specifically, this paper will provide a brief overview of NF1...
Source: Behavior Genetics - Category: Genetics & Stem Cells Authors: Tags: Behav Genet Source Type: research
Abstract About 5% of gastroenteropancreatic and thoracic neuroendocrine neoplasms (NENs) arise in the context of an inherited tumour syndrome. The two most frequent syndromes are: multiple endocrine neoplasia type 1 (MEN1), associated with a large spectrum of endocrine and non endocrine tumours, including duodenopancreatic, thymic and bronchial NENs, and the von Hippel-Lindau syndrome VHL, associated with pancreatic NENs. Two inherited syndromes have a low incidence of NENs: neurofibromatosis type 1 (NF1), associated with duodenal somatostatinomas, and tuberous sclerosis (TSC), associated with pancreatic NENs. Two...
Source: Annales de Pathologie - Category: Pathology Authors: Tags: Ann Pathol Source Type: research
Genetics in Medicine, Published online: 04 February 2020; doi:10.1038/s41436-020-0752-2Examination of the genetic factors underlying the cognitive variability associated with neurofibromatosis type 1
Source: Genetics in Medicine - Category: Genetics & Stem Cells Authors: Source Type: research
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