Congenital subependymal giant cell astrocytomas in patients with tuberous sclerosis complex
Katarzyna Kotulska,Julita Borkowska,Marek Mandera,Marcin Roszkowski,Elżbieta Jurkiewicz,Wiesława Grajkowska,Małgorzata Bilska,Sergiusz Jóźwiak +7 more
Reads0
Chats0
TLDR
Patients with T SC2 mutations, and especially with TSC2/PKD1 mutations, are more prone to develop SEGA earlier in childhood and should be screened for SEGA from birth.Abstract:
Purpose
Subependymal giant cell astrocytoma (SEGA) is a brain tumor associated with tuberous sclerosis complex (TSC). It usually grows in a second decade of life, but may develop in the first months of life. The aim of this work was to establish the incidence, clinical features, and outcome of congenital SEGA in TSC patients.read more
Citations
More filters
Journal ArticleDOI
Tuberous sclerosis complex
Elizabeth P. Henske,Sergiusz Jóźwiak,J. Christopher Kingswood,Julian R. Sampson,Elizabeth A. Thiele +4 more
TL;DR: The state-of-the-art knowledge in the TSC field is reviewed, including the molecular and cellular basis of the disease, medical management, major knowledge gaps and ongoing research towards a cure.
Journal ArticleDOI
Differentiating the mTOR inhibitors everolimus and sirolimus in the treatment of tuberous sclerosis complex.
TL;DR: Everolimus and sirolimus selectively inhibit mTOR signaling with similar molecular mechanisms, but with distinct clinical profiles, differentiating mTOR inhibitors in TSC.
Journal ArticleDOI
Intracranial hemorrhage in neonates: A review of etiologies, patterns and predicted clinical outcomes.
TL;DR: The etiologies of neonatal ICH are classified into eight main categories: Hemorrhagic stroke including large focal hematoma, Prematurity-related hemorrhage, Bleeding diathesis, Genetic causes, Infection, Trauma-relatedrhage, Tumor- related hemorrhage and Vascular malformations.
Journal ArticleDOI
Diagnosis of tuberous sclerosis complex in the fetus.
TL;DR: In the past decades prenatal molecular diagnosis of TSC has emerged as an important option for families with a known affected member; however, the existing evidence with regards to the clinical characteristics and long-term outcome of babies diagnosed prenatally with TSC is yet limited and the path that follows early TSC detection merits further research.
Journal ArticleDOI
The Neurodevelopmental Pathogenesis of Tuberous Sclerosis Complex (TSC)
TL;DR: A description of clinical imaging and histochemical findings is provided in relation to laboratory models of TSC that will allow the reader to appreciate how human pathology can provide an understanding of the fundamental mechanisms of development.
References
More filters
Journal ArticleDOI
Everolimus for Subependymal Giant-Cell Astrocytomas in Tuberous Sclerosis
Darcy A. Krueger,Marguerite M. Caré,Katherine D. Holland,Karen Agricola,Cynthia Tudor,Prajakta Mangeshkar,Kimberly Wilson,Anna W. Byars,Tarek Sahmoud,David Neal Franz +9 more
TL;DR: Everolimus therapy was associated with marked reduction in the volume of subependymal giant-cell astrocytomas and seizure frequency and may be a potential alternative to neurosurgical resection in some cases, though long-term studies are needed.
Journal ArticleDOI
Mutational Analysis in a Cohort of 224 Tuberous Sclerosis Patients Indicates Increased Severity of TSC2, Compared with TSC1, Disease in Multiple Organs
Sandra L. Dabora,Sergiusz Jozwiak,David Neal Franz,Penelope S. Roberts,Andres Nieto,Joon Chung,Yew-Sing Choy,Yew-Sing Choy,Mary Pat Reeve,Elizabeth A. Thiele,John C. Egelhoff,Jolanta Kasprzyk-Obara,Dorota Domańska-Pakieła,David J. Kwiatkowski +13 more
TL;DR: The reduced severity of disease in patients without defined mutations suggests that many of these patients are mosaic for a TSC2 mutation and/or have TSC because of mutations in an as-yet-unidentified locus with a relatively mild clinical phenotype.
Journal ArticleDOI
Efficacy and safety of everolimus for subependymal giant cell astrocytomas associated with tuberous sclerosis complex (EXIST-1): a multicentre, randomised, placebo-controlled phase 3 trial
David Neal Franz,Elena Belousova,Steven Sparagana,E. Martina Bebin,Michael Frost,Rachel Kuperman,Olaf Witt,Michael Kohrman,J. Robert Flamini,Joyce Y. Wu,Paolo Curatolo,Petrus J. de Vries,Vicky Whittemore,Elizabeth A. Thiele,James Ford,Gaurav D. Shah,Helene Cauwel,David Lebwohl,Tarek Sahmoud,Sergiusz Jozwiak +19 more
TL;DR: These results support the use of everolimus for subependymal giant cell astrocytomas associated with tuberous sclerosis and suggest it might represent a disease-modifying treatment for other aspects of tuberousclerosis.
Related Papers (5)
Tuberous Sclerosis Complex Diagnostic Criteria Update: Recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference
Hope Northrup,Darcy A. Krueger +1 more
Efficacy and safety of everolimus for subependymal giant cell astrocytomas associated with tuberous sclerosis complex (EXIST-1): a multicentre, randomised, placebo-controlled phase 3 trial
David Neal Franz,Elena Belousova,Steven Sparagana,E. Martina Bebin,Michael Frost,Rachel Kuperman,Olaf Witt,Michael Kohrman,J. Robert Flamini,Joyce Y. Wu,Paolo Curatolo,Petrus J. de Vries,Vicky Whittemore,Elizabeth A. Thiele,James Ford,Gaurav D. Shah,Helene Cauwel,David Lebwohl,Tarek Sahmoud,Sergiusz Jozwiak +19 more