Role of mTOR signaling pathway in the pathogenesis of subependymal giant cell astrocytoma – A study of 28 cases

Neurology India - Tập 64 Số 5 - Trang 988 - 2016
MeharC Sharma1, Kalpana Kumari1, Aanchal Kakkar1, Prit Benny Malgulwar1, Pankaj Pathak1, Vaishali Suri1, Chitra Sarkar1, Sarat Chandra2, Mohammed Faruq3, RakeshK Gupta4, RavindraK Saran4
1Department of Pathology, All India Institute of Medical Sciences, New Delhi, India
2Department of Neurosurgery, All India Institute of Medical Sciences, New Delhi, India
3Institute of Genomics and Integrative Biology–Council of Scientific and Industrial Research, New Delhi, India
4Department of Pathology, GB Pant Hospital, New Delhi, India

Tóm tắt

Từ khóa


Tài liệu tham khảo

Lopes MB, Wiestler OD, Stemmer-Rachamimov AO, Sharma MC. Tuberous sclerosis complex and subependymal giant cell astrocytomas. In: Louis DN, Ohgaki H, Wiestler OD, Cavenee WK, editors. WHO Classification of Tumours of the Central Nervous System. 4th ed. Lyon: IARC; 2007. p. 218-21.

van, 1997, Science, Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34, 805

European, 1993, Cell, Identification and characterization of the tuberous sclerosis gene on chromosome 16, 1305

Roach, 1998, J Child Neurol, Tuberous sclerosis complex consensus conference: Revised clinical diagnostic criteria, 624

Park, 1997, Acta Neuropathol, Tuberous sclerosis in a 20-week gestation fetus: Immunohistochemical study, 180

Gao, 2002, Nat Cell Biol, TSC tumour suppressor proteins antagonize amino-acid-TOR signalling, 699

Inoki, 2002, Nat Cell Biol, TSC2 is phosphorylated and inhibited by Akt and suppresses mTOR signalling, 648

Onda, 2002, Mol Cell Neurosci, Tsc2 null murine neuronal epithelial cells are a model for human tuber giant cells and show activation of an mTOR pathway, 561

Gomez MR, Sampson JR, Whittemore VH. Tuberous Sclerosis Complex. New York: Oxford University Press; 1999. p. 10-22.

Kumar, 1997, Hum Mutat, A novel splice site mutation (156+1G->A) in the TSC2 gene, 64

Chan, 2004, J Neuropathol Exp Neurol, Pathogenesis of tuberous sclerosis subependymal giant cell astrocytomas: Biallelic inactivation of TSC1 or TSC2 leads to mTOR activation, 1236

Sancak, 2005, Eur J Hum Genet, Mutational analysis of the TSC1 and TSC2 genes in a diagnostic setting: Genotype–phenotype correlations and comparison of diagnostic DNA techniques in tuberous sclerosis complex, 731

Jóźwiak, 2004, J Child Neurol, Tuberin and hamartin expression is reduced in the majority of subependymal giant cell astrocytomas in tuberous sclerosis complex consistent with a two-hit model of pathogenesis, 102

Kwiatkowski, 2003, Ann Hum Genet, Tuberous sclerosis: From tubers to mTOR, 87

Crino, 2004, J Child Neurol, Molecular pathogenesis of tuber formation in tuberous sclerosis complex, 716

Henske, 1997, Am J Pathol, Loss of tuberin in both subependymal giant cell astrocytomas and angiomyolipomas supports a two-hit model for the pathogenesis of tuberous sclerosis tumors, 1639

Dabora, 2001, Am J Hum Genet, Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs, 64

Crino, 2010, Neurology, Biallelic TSC gene inactivation in tuberous sclerosis complex, 1716

Niida, 2001, Am J Hum Genet, Survey of somatic mutations in tuberous sclerosis complex (TSC) hamartomas suggests different genetic mechanisms for pathogenesis of TSC lesions, 493

Takei, 2014, Front Mol Neurosci, mTOR signaling and its roles in normal and abnormal brain development, 28

Zoncu, 2011, Nat Rev Mol Cell Biol, mTOR: From growth signal integration to cancer, diabetes and ageing, 21

Li, 2011, J Neurooncol, Association between AKT/mTOR signalling and malignancy grade of human gliomas, 453

Goncharova, 2002, J Biol Chem, Tuberin regulates p70 S6 kinase activation and ribosomal protein S6 phosphorylation.A role for the TSC2 tumor suppressor gene in pulmonary lymphangioleiomyomatosis (LAM), 30958

Crino, 2011, Trends Mol Med, mTOR: A pathogenic signaling pathway in developmental brain malformations, 734

Barrows, 2012, Turk Patoloji Derg, Evidence of ambiguous differentiation and mTOR pathway dysregulation in subependymal giant cell astrocytoma, 95

Dan, 2000, J Biol Chem, Phosphatidylinositol 3-kinase/Akt pathway regulates tuberous sclerosis tumor suppressor complex by phosphorylation of tuberin, 35364

Krymskaya VP. Tumour suppressors hamartin and tuberin: Intracellular signalling. Cell Signal 2003;15:729-39.

Inoki, 2003, Cell, TSC2 mediates cellular energy response to control cell growth and survival, 577

Baybis, 2004, Ann Neurol, mTOR cascade activation distinguishes tubers from focal cortical dysplasia, 478

Lim, 2013, Neuroscience, Focal malformations of cortical development: New vistas for molecular pathogenesis, 262

Liu, 2014, Acta Neuropathol Commun, Evidence of mTOR pathway activation in a spectrum of epilepsy-associated pathologies, 71

Gunny, 2005, Pediatr Radiol, Spontaneous regression of residual low-grade cerebellar pilocytic astrocytomas in children, 1086

Kojima, 2013, JAKSTAT, IL-6-STAT3 signalling and premature senescence, e25763

Yu, 2009, Nat Rev Cancer, STATs in cancer inflammation and immunity: A leading role for STAT3, 798