Natural History and Current Treatment Options for Subependymal Giant Cell Astrocytoma in Tuberous Sclerosis Complex

Subependymal giant cell astrocytoma (SEGA) is a benign brain tumor associated with tuberous sclerosis complex (TSC). Since there were some discrepancies in SEGA classification, in 2012, a consensus statement defined SEGA as a lesion at the caudothalamic groove with either a size of more than 1cm in any direction or a subependymal lesion at any location that has shown serial growth on consecutive imaging regardless of size. This pointed that the documented tumor growing is an important diagnostic feature.
Source: Seminars in Pediatric Neurology - Category: Neurology Authors: Source Type: research

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AbstractPulmonary hypertension (PH) has been described in myelofibrosis (MF), but it is rare and typically found in advanced disease. Although the etiology of PH in MF is unclear, early predictors may be detected by echocardiogram. The goals of our study were to evaluate the prevalence of PH as determined by echocardiography in a cohort of MF patients and to identify clinical risk factors for PH. We performed a retrospective review of MF patients from October 2015 to May 2017 at MD Anderson Cancer Center in the ambulatory clinic, and those with echocardiogram were included. Clinical, echocardiographic, and laboratory data ...
Source: Annals of Hematology - Category: Hematology Source Type: research
Publication date: Available online 17 February 2020Source: Inorganica Chimica ActaAuthor(s): Hassan H. Hammud, Ulrich Kortz, Saurav Bhattacharya, Sally Demirdjian, Essa Hariri, Samih Isber, Eun Sang Choi, Babak Mirtamizdoust, Mohamad Mroueh, Costantine F. DaherAbstractThe dinuclear complex Bis[(µ2-azido)-chloro-(1,10-phenanthroline)-copper(II)] (1) was synthesized, and characterized by X-ray. Complex (1) crystallizes in the monoclinic system, it consists of centrosymmetric [CuCl(phen)N3]2 dimers bridged by azide groups. The phenanthroline ligand, chloride ion, and ƞ-N of equatorial bridging azide ligand are coplanar...
Source: Inorganica Chimica Acta - Category: Chemistry Source Type: research
Condition:   Glioma Intervention:   Other: Matched Tumour and Blood Sample Sponsors:   University of Birmingham;   The Brain Tumour Charity;   University of Oxford;   The University of Edinburgh Not yet recruiting
Source: ClinicalTrials.gov - Category: Research Source Type: clinical trials
We present a clinical case of combined tentorial meningioma and cerebellopontine angle epidermoid cyst (EC) in a 33-year-old woman. According to the literature, ours is the fifth case involving a combination of such tumours and the first in which the tumours were located in the posterior cranial fossa. Occurrence of a combination of brain tumours with different histological structures in the same patient is very rare. Nevertheless, the possibility of such a combination should always be considered, and thorough preoperative diagnostics are required to prevent complications and misdiagnosis. Currently, the combination of men...
Source: Interdisciplinary Neurosurgery - Category: Neurosurgery Source Type: research
Contributors : Zhangli Su ; Pankaj Kumar ; Anindya DuttaSeries Type : Genome binding/occupancy profiling by high throughput sequencingOrganism : Homo sapiensExtrachromosomal circular DNAs (eccDNAs) are usually somatically mosaic and a source of intercellular heterogeneity in normal and tumor cells. Because short eccDNAs are poorly chromatinized, we hypothesized that they are sequenced by tagmentation in ATAC-seq experiments, without any enrichment of circular DNA, and thus identified thousands of eccDNAs. The eccDNAs identified in cell lines were validated by inverse PCR on DNA that survives exonuclease digestion of linear...
Source: GEO: Gene Expression Omnibus - Category: Genetics & Stem Cells Tags: Genome binding/occupancy profiling by high throughput sequencing Homo sapiens Source Type: research
Conclusion Several TISC-based immunotherapeutic approaches are under development in various stages of preclinical studies. As outlined in this review article, a careful and more exhaustive genetic and metabolic understanding of TISC-associated phenotypes is critical to develop novel TISC based immunotherapies. Various components within the tumor microenvironment such as tumor cells, infiltrating immune cells, and supporting stromal cells impact the TISC metabolism. This unique metabolic profile leads to upregulation of certain enzymes and proteins such as ALDH1, CEP55, IDO COA1 etc., which can be utilized for development ...
Source: Frontiers in Oncology - Category: Cancer & Oncology Source Type: research
ska M Abstract Tuberous sclerosis complex (TSC) represents a genetic condition, in which the clinical manifestations are caused by the disinhibition of the mammalian target of rapamycin (mTOR) pathway due to mutations in the TSC1 (hamartin) or TSC2 (tuberin) genes. The deregulated mTOR activity leads to multi-site tumors, including subependymal giant cell astrocytoma (SEGA). SEGA is a brain tumor that affects around 15% of TSC patients. The aim of the study was to evaluate miR-21 expression in the serum of two groups of TSC patients: with or without SEGA tumors. We found no differences in the level of mi...
Source: Folia Neuropathologica - Category: Pathology Authors: Tags: Folia Neuropathol Source Type: research
We present a 58-year-old patient with known TSC, admitted for new neurological symptoms, diagnosed with a large heterogeneous tumor involving most of the corpus callosum. Stereotactic needle brain biopsy confirmed the diagnosis to be GBM. Five previously reported similar cases are reviewed, reflecting diversity in clinical and radiological findings and indicating that a high index of clinical suspicion must be maintained in patients with TSC.
Source: Journal of Clinical Neuroscience - Category: Neuroscience Source Type: research
Abstract INTRODUCTION: Tuberous sclerosis complex (TSC) is a rare autosomal dominant genetic disease, characterized by the development of benign tumors in several organs. During infancy, 6 - 20% of patients develop brain tumors called subependymal giant cell astrocytoma (SEGA). CASE REPORTS: Here we present two patients with TSC, who displayed acute intracranial tumors requiring surgery. Although both tumors shared similar histological aspects with large astrocytic cells and worrisome features, immunohistochemical and genetic analysis successfully distinguished an opposite diagnosis for the two pati...
Source: Clinical Neuropathology - Category: Pathology Authors: Tags: Clin Neuropathol Source Type: research
Subependymal giant cell astrocytoma (SEGA) is a benign brain tumor associated with tuberous sclerosis complex (TSC). Since there were some discrepancies in SEGA classification, in 2012 a consensus statement defined SEGA as a lesion at the caudothalamic groove with either a size of more than 1 cm in any direction or a subependymal lesion at any location that has shown serial growth on consecutive imaging regardless of size. This pointed that the documented tumor growing is an important diagnostic feature.
Source: Seminars in Pediatric Neurology - Category: Neurology Authors: Source Type: research
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