Subependymal giant cell astrocytomas are characterized by mTORC1 hyperactivation, a very low somatic mutation rate, and a unique gene expression profile
Author:
Funder
The Engles Family for Research in TSC and LAM
Publisher
Springer Science and Business Media LLC
Subject
Pathology and Forensic Medicine
Link
https://www.nature.com/articles/s41379-020-00659-9.pdf
Reference50 articles.
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2. Kotulska K, Borkowska J, Roszkowski M, Mandera M, Daszkiewicz P, Drabik K, et al. Surgical treatment of subependymal giant cell astrocytoma in tuberous sclerosis complex patients. Pediatr Neurol. 2014;50:307–12.
3. Henske EP, Jóźwiak S, Kingswood JC, Sampson JR, Thiele EA. Tuberous sclerosis complex. Nat Rev Dis Prim. 2016;2:16035.
4. Salussolia CL, Klonowska K, Kwiatkowski DJ, Sahin M. Genetic etiologies, diagnosis, and treatment of tuberous sclerosis complex. Annu Rev Genomics Hum Genet. 2019;20:217–40.
5. Bongaarts A, Giannikou K, Reinten RJ, Anink JJ, Mills JD, Jansen FE, et al. Subependymal giant cell astrocytomas in Tuberous sclerosis complex have consistent TSC1/TSC2 biallelic inactivation, and no BRAF mutations. Oncotarget. 2017;8:95516–29.
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