Subependymal Giant Cell Astrocytoma Associated with Tuberous Sclerosis Complex – Pharmacological Treatment using mTOR Inhibitors

Zitterbart, Karel

doi:10.14735/amko2014401

Cited by 2 publications

(1 citation statement)

References 24 publications

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“…Sub-ependymal giant cell astrocytomas are seen exclusively in patients with tuberous sclerosis and are found in 10-20% of children with TS during the first two decades of life [7]. The underlying mechanism for these tumors involves the pathogenic activation of mTORC1 [8]. SEGA arises from subependymal nodules, and the histopathology is indistinguishable from sub-ependymal nodules [9].…”

Section: Discussionmentioning

confidence: 99%

Focal Status and Sub-Ependymal Tumor as Features of the First Presentation in a Child With Tuberous Sclerosis

Dayasiri¹,

Thadchanamoorthy²,

Thudugala³

et al. 2020

Cureus

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Tuberous sclerosis (TS) is an autosomal dominant inherited disorder that affects multiple organ systems. Usually, children with TS present either with neurocutaneous stigmata or seizures during the early years of life. The mortality and morbidity are related to refractory epilepsy, giant cell astrocytoma and related complications, and multiple angiomyolipomas. The authors have reported an eleven-year-old child in whom focal status and sub-ependymal tumor were the features of the first presentation of tuberous sclerosis. The report further highlights the importance of early identification of cutaneous features by primary care providers and parents to enable early comprehensive multidisciplinary management.

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Section: Discussionmentioning

confidence: 99%

Focal Status and Sub-Ependymal Tumor as Features of the First Presentation in a Child With Tuberous Sclerosis

Dayasiri¹,

Thadchanamoorthy²,

Thudugala³

et al. 2020

Cureus

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Neoplastic potential for malformations of the development of ecto- and mesodermal structures

et al. 2020

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Introduction.Malformations of ecto- and mesodermal structures represent various forms of abnormality of intrauterine systemic and local morphogenesis, arising at different times of embryonic development due to environmental factors, genomic, chromosomal or gene mutations. Dysregulation of cellular functions due to mutations and accumulation of defective proteins initiates tumor transformation of tissues e.g. hereditary diseases of ectomesodermal origin phakomatosis (hamartomatosis). The aim of the studywas to determine organ specificity, clinical manifestations, morphological features and the degree of progression of tumors of the nervous system and internal organs in hereditary diseases of ectomesodermal origin. Materials and methods.103 patients with hereditary phakomatosis were examined. All of them underwent a comprehensive clinical imaging examination, including magnetic resonance imaging, echocardioscopy, ultrasound examination of the abdominal organs, kidneys, retroperitoneal space, and computed tomography of the abdominal cavity and lungs. Results.The reason for the treatment of patients was the occurrence of focal neurological symptoms, focal and/or generalized epileptic seizures. Clinical manifestations were determined by the form of the disease. The risk of the development and progression of various neoplasms is the highest in neurofibromatosis type III, tuberous sclerosis, neurocutaneous melanosis, multiple endocrine neoplasia, angiomatosis of HippelLindau, Louis-Bar . Favorable benign and stable course, low malignant potential are distinguishing characteristics of pigment-vascular phakomatoses type IV. Conclusion.Knowledge of the clinical manifestations of various malformations of the skin, blood vessels, and the nervous system associated with tumor growth in cells and tissues is practically significant. Early diagnosis and the use of modern technologies of conservative and surgical treatment allow achieving a predictable result, prevent the development of severe complications, and significantly improve the quality of life of patients with this pathology.

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Subependymal Giant Cell Astrocytoma Associated with Tuberous Sclerosis Complex – Pharmacological Treatment using mTOR Inhibitors

Cited by 2 publications

References 24 publications

Focal Status and Sub-Ependymal Tumor as Features of the First Presentation in a Child With Tuberous Sclerosis

Focal Status and Sub-Ependymal Tumor as Features of the First Presentation in a Child With Tuberous Sclerosis

Neoplastic potential for malformations of the development of ecto- and mesodermal structures

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