New cause of child brain tumor condition identified

(University of Manchester) Doctors and scientists from the University of Manchester have identified changes in a gene, which can increase the risk of developing brain tumors in children with a rare inherited condition called Gorlin syndrome.
Source: EurekAlert! - Medicine and Health - Category: Global & Universal Source Type: news

Related Links:

Abstract Glioblastoma multiforme (GBM) is a devastating disease without cure. It is also the most common primary brain tumor in adults. Although aggressive surgical resection is standard of care, these operations are limited by tumor infiltration of critical cortical and subcortical regions. A better understanding of how the brain can recover and reorganize function in response to GBM would provide valuable clinical data. This ability, termed neuroplasticity, is not well understood in the adult human brain. A better understanding of neuroplasticity in GBM could allow for improved extent of resection, even in areas...
Source: Neural Plasticity - Category: Neurology Authors: Tags: Neural Plast Source Type: research
AbstractObjectivesTo investigate the value of contrast-enhanced (CE) turbo spin echo black blood (BB) sequences for imaging of therapy-naive high-grade gliomas (HGGs).MethodsConsecutive patients with histopathologically confirmed World Health Organization (WHO) grade III or IV gliomas and no oncological treatment prior to index imaging (March 2019 to January 2020) were retrospectively included. Magnetic resonance imaging (MRI)  at 3 Tesla comprised CE BB and CE turbo field echo (TFE) sequences. The lack/presence of tumor-related contrast enhancement and satellite lesions were evaluated by two readers. Sharper delineat...
Source: European Radiology - Category: Radiology Source Type: research
ConclusionsGradient washout has not been widely reported in humans, although it has been observed in the mammalian kidneys after prolonged polyuria. Although not a problem with aquaporin protein expression or production, gradient washout causes a different type of secondary nephrogenic diabetes insipidus because the absence of a medullary gradient impairs water reabsorption. We report a case of an infant who developed complex water and sodium imbalances after brain injury. Prolonged polyuria resulting from both water and solute diuresis with low enteral protein intake was thought to cause a urea gradient washout and second...
Source: Journal of Medical Case Reports - Category: General Medicine Source Type: research
Medulloblastoma is the most common malignant brain tumor in children. Here we describe a medulloblastoma model using Induced pluripotent stem (iPS) cell-derived human neuroepithelial stem (NES) cells generated from a Gorlin syndrome patient carrying a germline mutation in the sonic hedgehog (SHH) receptor PTCH1. We found that Gorlin NES cells...
Source: Proceedings of the National Academy of Sciences - Category: Science Authors: Tags: Biological Sciences Source Type: research
Medulloblastoma is the most common childhood malignant brain tumor and is considered a minor criterion in the diagnosis of nevoid basal cell carcinoma syndrome (NBCCS). Metastasis of this primitive neuroectodermal tumor is commonly neuraxial; however, extra-neuraxial metastasis have been documented in the literature. Extra-neuraxial metastasis to the jaws is a rare occurrence with only eight cases previously described in the literature. This case documents a unique case of metastatic medulloblastoma to the mandible in a patient previously diagnosed with NBCCS.
Source: Journal of Oral and Maxillofacial Surgery - Category: ENT & OMF Authors: Tags: Case Report Source Type: research
In conclusion, we have shown the safety and efficacy of Vemurafenib in a pediatric patient with DS affected by PXA. Ethics Statement This study was carried out in accordance with the recommendations of the Internal Review Board of the Bambino Gesù Children's Hospital with written informed consent from all subjects. All subjects gave written informed consent in accordance with the Declaration of Helsinki. The protocol was approved by the Internal Review Board of the Bambino Gesù Children's Hospital. Informed Consent The authors declare that written informed consent was obtained from the pat...
Source: Frontiers in Oncology - Category: Cancer & Oncology Source Type: research
Abstract The Hedgehog (Hh) pathway is a highly conserved signaling system regulating a range of developmental processes. A 1997 paper by Goodrich and colleagues provided major contributions to understanding the Hh pathway by mutating the gene encoding the Hh receptor, Patched, and thereby developing a mouse model for a human cancer predisposition syndrome, known as Gorlin syndrome. These studies provided one of the first genetically engineered mouse models for brain tumors. PMID: 30471664 [PubMed - in process]
Source: Trends in Neurosciences - Category: Neuroscience Authors: Tags: Trends Neurosci Source Type: research
ler L Abstract Gorlin syndrome and rhabdoid tumor predisposition syndrome (RTPS) are autosomal dominant syndromes associated with an increased risk of childhood-onset brain tumors. Individuals with Gorlin syndrome can manifest a wide range of phenotypic abnormalities, with about 5% of family members developing medulloblastoma, usually occurring in the first 3 years of life. Gorlin syndrome is associated with germline mutations in components of the Sonic Hedgehog pathway, including Patched1 (PTCH1) and Suppressor of fused (SUFU)SUFU mutation carriers appear to have an especially high risk of early-onset medulloblas...
Source: Clinical Cancer Research - Category: Cancer & Oncology Authors: Tags: Clin Cancer Res Source Type: research
The etiology of most childhood cancer remains largely unknown, but is likely attributable to random or induced genetic aberrations in somatic tissue. However, a subset of children develops cancer in the setting of an underlying inheritable condition involving a germline genetic mutation or chromosomal aberration. The term "neurocutaneous syndrome" encompasses a group of multisystem, hereditary disorders that are associated with skin manifestations as well as central and/or peripheral nervous system lesions of variable severity. This review outlines the central nervous system tumors associated with underlying neur...
Source: Journal of Child Neurology - Category: Neurology Authors: Tags: Original Articles Source Type: research
In conclusion, utilizing genomic sequencing we have detected a novel SUFU mutation in a child with multiple cancers and family history consistent with mutations in the Sonic Hedgehog-Patched-Gli pathway. In the absence of genotype/phenotype specific guidelines, Gorlin syndrome recommendations including intensive brain MRI are being followed and given the paucity of data related to outcome for targeted therapies in children with pathogenic SUFU mutations further investigations are warranted.Citation Format: Michael F. Walsh, Megan Harlan, Jennifer Kennedy, Jacob Musinsky, Michael LaQuaglia, Zsofia Stadler, Stephan Gilheeney...
Source: Cancer Research - Category: Cancer & Oncology Authors: Tags: Applied and Clinical Genomics Source Type: research
More News: Brain | Brain Cancers | Brain Tumor | Children | Genetics | Gorlin syndrome | Health | International Medicine & Public Health | Neurology