Literature DB >> 29211682

The natural history of subependymal giant cell astrocytomas in tuberous sclerosis complex: a review.

Denise L Chan1, Tessa Calder2, John A Lawson1, David Mowat2, Sean E Kennedy1.   

Abstract

Tuberous sclerosis complex (TSC) is an auto-somal-dominant inherited condition with an incidence of approximately 1:6000 births, characterised by deregulated mTOR activity with multi-site hamartomas. Subependymal giant cell astrocytomas (SEGA) are one such hamartoma, affecting up to 24% of patients with TSC. Their intraventricular location may lead to life-threatening obstructive hydrocephalus. Current management is hampered by a lack of understanding regarding the natural history, behaviour and growth patterns of SEGA. We review the current literature to summarise what is known about SEGA in the following areas: (1) diagnostic criteria, (2) prevalence, (3) origin, (4) imaging characteristics, (5) growth rate, (6) genotype-phenotype correlation, (7) congenital SEGA and (8) SEGA as a marker of severity of other TSC manifestations.

Entities:  

Keywords:  MRI; SEGA; TSC; genotype; growth; neuroimaging

Mesh:

Substances:

Year:  2018        PMID: 29211682     DOI: 10.1515/revneuro-2017-0027

Source DB:  PubMed          Journal:  Rev Neurosci        ISSN: 0334-1763            Impact factor:   4.353


  5 in total

1.  Growth Curves of Subependymal Giant Cell Tumors in Tuberous Sclerosis Complex.

Authors:  J R Barnett; J H Freedman; H Zheng; E A Thiele; P Caruso
Journal:  AJNR Am J Neuroradiol       Date:  2021-10       Impact factor: 4.966

2.  Newly Diagnosed and Growing Subependymal Giant Cell Astrocytoma in Adults With Tuberous Sclerosis Complex: Results From the International TOSCA Study.

Authors:  Anna C Jansen; Elena Belousova; Mirjana P Benedik; Tom Carter; Vincent Cottin; Paolo Curatolo; Lisa D'Amato; Guillaume Beaure d'Augères; Petrus J de Vries; José C Ferreira; Martha Feucht; Carla Fladrowski; Christoph Hertzberg; Sergiusz Jozwiak; John A Lawson; Alfons Macaya; Ruben Marques; Rima Nabbout; Finbar O'Callaghan; Jiong Qin; Valentin Sander; Matthias Sauter; Seema Shah; Yukitoshi Takahashi; Renaud Touraine; Sotiris Youroukos; Bernard Zonnenberg; John C Kingswood
Journal:  Front Neurol       Date:  2019-08-02       Impact factor: 4.003

Review 3.  A systematic review on the burden of illness in individuals with tuberous sclerosis complex (TSC).

Authors:  Johann Philipp Zöllner; David Neal Franz; Christoph Hertzberg; Rima Nabbout; Felix Rosenow; Matthias Sauter; Susanne Schubert-Bast; Adelheid Wiemer-Kruel; Adam Strzelczyk
Journal:  Orphanet J Rare Dis       Date:  2020-01-21       Impact factor: 4.123

4.  Experience using mTOR inhibitors for subependymal giant cell astrocytoma in tuberous sclerosis complex at a single facility.

Authors:  Kyoichi Tomoto; Ayataka Fujimoto; Chikanori Inenaga; Tohru Okanishi; Shin Imai; Masaaki Ogai; Akiko Fukunaga; Hidenori Nakamura; Keishiro Sato; Akira Obana; Takayuki Masui; Yoshifumi Arai; Hideo Enoki
Journal:  BMC Neurol       Date:  2021-03-31       Impact factor: 2.474

5.  Early diagnosis of a newborn with tuberous sclerosis caused by a genetic mutation.

Authors:  Lin Qiao; Yuting Yang; Dongmei Yue
Journal:  J Int Med Res       Date:  2021-08       Impact factor: 1.671

  5 in total

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