Subependymal Giant Cell Astrocytomas

Tuberous Sclerosis Complex: Genes, Clinical Features and Therapeutics

Volumn , Issue , 2010, Pages 211-228

  Franz, David Neal ^a   Krueger, Darcy A ^a   Gregory Balko, M ^b  

^a UNIVERSITY OF CINCINNATI COLLEGE OF MEDICINE   (United States)

^b WRIGHT STATE UNIVERSITY   (United States)

Author keywords

Giant cell; Obstructive hydrocephalus; Rapamycin; SEGAs; Subependymal nodule; Tuberous sclerosis complex

Indexed keywords

EID: 79952600683     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1002/9783527630073.ch11     Document Type: Chapter

References (51)

1. Burger, P.C. and Scheithauer, B.W. (2007) Tumors of the Central Nervous System, AFIP Atlas of Tumor Pathology, Series 4, AFIP, pp. 114-118.
2. O'Callaghan, F.J., Martyn, C.N., Renowden, S. et al. (2008) Subependymal nodules, giant cell astrocytomas and the tuberous sclerosis complex: a populationbased study. Arch. Dis. Child, 93 (9), 751-754.
3. de Carvalho, N.A. Gasparetto, E.L. et al. (2006) Subependymal giant cell astrocytoma with high choline/creatine ratio on proton MR spectroscopy. Arq. Neuropsiquiatr., 64 (3B), 877-880.
4. Kim S.K., Wang, K.C., Cho, B.K. et al. (2001) Biological behavior and tumorigenesis of subependymal giant cell astrocytomas. J. Neurooncol., 52 (3), 317-325.
5. Shepherd, C.W., Scheithauer, B., and Gomez, M.R. (1991) Brain tumors in tuberous sclerosis: a clinicopathologic study of the Mayo Clinic experience. Ann. N.Y. Acad. Sci., 615, 378-379.
6. Nabbout, R., Santos, M., Rolland, Y. et al. (2000) Early diagnosis of subependymal giant cell astrocytoma in children with tuberous sclerosis. J. Neurol. Neurosurg. Psychiatry, 66 (3), 370-375.
7. Goh, S., Butler,W., and Thiele, E.A. (2004) Subependymal giant cell tumors in tuberous sclerosis complex. Neurology, 63 (8), 1457-1461.
8. Roach, E.S., Gomez, M.R., and Northrup, H. (1998) Tuberous sclerosis complex consensus conference: revised clinical diagnostic criteria. J. Child Neurol., 13 (12), 624-628.
9. Torres, O.A., Roach, E.S., Delgado, M.R. et al. (1998) Early diagnosis of subependymal giant cell astrocytoma in patients with tuberous sclerosis. J. Child Neurol., 13 (4), 173-177.
10. Sharma, M., Ralte, A., Arora, R. et al. (2004) Subependymal giant cell astrocytoma: a clinicopathological study of 23 cases with special emphasis on proliferative markers and expression of p53 and retinoblastoma gene proteins. Pathology, 36 (2), 139-144.
11. Mizuguchi, M. and Takashima, S. (2001) Neuropathology of tuberous sclerosis. Brain Dev., 23 (7), 508-515.
12. Jóźwiak, S., Kwiatkowski, D., Kotulska, K. et al. (2004) 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. J. Child Neurol., 19 (2), 102-106.
13. Hirose, T., Scheithauer, B.W., Lopes, M.B. et al. (1995) Tuber and subependymal giant cell astrocytoma associated with tuberous sclerosis: an immunohistochemical, ultrastructural, and immunoelectron and microscopic study. Acta Neuropathol., 90 (4), 387-399.
14. Scheithauer, B.W. (1992) The neuropathology of tuberous sclerosis. J. Dermatol., 19 (11), 897-903.
15. Buccoliero, A.M., Franchi, A., Castigione, F. et al. (2009) Subependymal giant cell astroycytoma (SEGA): Is it an astrocytoma? Morphological, immunohistochemical and ultrastructural study. Neuropathology 29 (1), 25-30.
16. Sharma, M.C., Ralte, A.M., Arora, R. et al. (2004) Subependymal giant cell astrocytoma: a clinicopathological study of 23 cases with special emphasis on proliferative markers and expression of p53 and retinoblastoma gene proteins. Pathology, 35 (2), 139-144.
17. Kawahara, I., Tsutsumi, K., Hirose, M. et al. (2004) Solitary subependymal giant cell astrocytoma: a forme fruste of tuberous sclerosis complex? No To Shinkei., 56 (7), 585-591, Japanese.
18. Jozwiak, J., Jozwiak, S., and Wlodarski, P. (2008) Possible mechanisms of disease development in tuberous sclerosis. Lancet Oncol., 9 (1), 73-79.
19. Prahlow, J.A. and Teot, L.A., Lantz, P.E., and Stanton, C.A. (1995) Sudden death in epilepsy due to an isolated subependymal giant cell astrocytoma of the septum pellucidum. Am. J. Forensic Med. Pathol., 16 (1), 30-37.
20. Jozwiak, J., Grajkowska, W., Kotulska, K. et al. (2007) Brain tumor formation in tuberous sclerosis depends on Erk activation. Neuromolecular Med., 9 (2), 117-127.
21. Ma, L., Teruva-Feldsten, J., Bonner, P. et al. (2007) Identification of S664 TSC2 phosphorylation as a marker for extracellular signal regulated kinase mediated mTOR activation in tuberous sclerosis and human cancer. Cancer Res., 67 (15), 7106-7112.
22. Chan, J.A., Zhang, H., Roberts, P.S. et al. (2004) Pathogenesis of tuberous sclerosis subependymal giant cell astrocytomas: biallelic inactivation of TSC1 or TSC2 leads to mTOR activation. J. Neuropathol. Exp. Neurol., 63 (12), 1236-1252.
23. Ess, K.C., Kamp, C.A., Tu, B.P. et al. (2005) Developmental origin of subependymal giant cell astrocytoma in tuberous sclerosis complex. Neurology, 64 (8), 1446-1449.
24. Gunduz, K., Eagle, R.C., Jr., Shields, C.L. et al. (1999) Invasive giant cell astrocytoma of the retina in a patient with tuberous sclerosis. Ophthalmology, 106 (3), 639-642.
25. Shields, J.A., Eagle, R.C., Jr., Shields, C.L. et al. (2004) Aggressive retinal astrocytomas in four patients with tuberous sclerosis complex. Trans. Am. Ophthalmol. Soc., 102, 139-147, discussion 147-148.
26. Shields, J.A., Eagle, R.C., Jr., Shields, C.L. et al. (2005) Aggressive retinal astrocytomas in 4 patients with tuberous sclerosis complex. Arch. Ophtalmol., 123 (6), 856-863.
27. Medhkour, A., Traul, D., and Husain, M. (2002) Neonatal subependymal giant cell astrocytoma. Pediatr. Neurosurg., 36 (5), 271-274.
28. Hussain, N., Curran, A., Pilling, D. et al. (2006) Congenital subependymal giant cell astrocytoma diagnosed on fetal MRI. Arch. Dis. Child, 91 (6), 520.
29. Bhende, P., Babu, K., Kumari, P. et al. (2004) Solitary retinal astrocytoma in an infant. J. Pediatr. Ophthalmol. Strabismus, 41 (5), 305-307.
30. Hahn, J.S., Bejar, R., and Gladson, C.L. (1991) Neonatal subependymal giant cell astrocytoma associated with tuberous sclerosis: MRI, CT, and ultrasound correlation. Neurology, 41 (1), 124-128.
31. Raju, G.P., Urion, D.K., and Sahin, M. (2007) Neonatal subependymal giant cell astrocytoma: new case and review of literature. Pediatr. Neurol., 36 (2), 128-131.
32. Dashti, S.R., Robinson, S., and Rodgers, M. (2005) Pineal region giant cell astrocytoma associated with tuberous sclerosis: case report. J. Neurosurg., 102 (3 Suppl), 322-325.
33. Telfeian, A.E., Judkins, A., Younkin, D. et al. (2004) Subependymal giant cell astrocytoma with cranial and spinal metastases in a patient with tuberous sclerosis. Case report. J. Neurosurg, 100 (5 Suppl, Pediatrics), 498-500.
34. Au, K.S., Williams, A.T., Roach, E.S. et al. (2007)Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States. Genet. Med., 9 (2), 88-100.
35. de Ribaupierre, S., Dorfmuller, G., Bulteau, C. et al. (2007) Subependymal giant-cell astrocytomas in pediatric tuberous sclerosis disease: when should we operate? Neurosurgery, 60 (1), 83-89.
36. Clarke, M.J., Foy, A.B., Wetjen, N. et al. (2006) Imaging characteristics and growth of subependymal giant cell astrocytomas. Neurosurg. Focus, 20 (1), E5.
37. Kalina, P., Drehobl, K.E., Greenberg, R.W. et al. (1995) Hemorrhagic subependymal giant cell astrocytoma. Pediatr. Radiol., 25 (1), 66-67.
38. Cuccia, V., Zuccaro, G., Sosa, F. et al. (2003) Subependymal giant cell astrocytoma in children with tuberous sclerosis. Childs Nerv. Syst., 19 (4), 232-243.
39. Kawasaki, S., Yamamoto, Y., Sunami, N. et al. (1999) Subependymal giant cell astrocytoma associated with tuberous sclerosis exhibiting rapid regrowth after 17 years: a case report. No Shinkei Geka, 27 (6), 550-556, Japanese.
40. Kashiwagi, N., Yoshihara,W., Shimada, N. et al. (2000) Solitary subependymal giant cell astrocytoma: case report. Eur. J. Radiol., 33 (1), 55-58.
41. Yamamoto, K., Yamada, K., Nakahara, T. et al. (2002) Rapid regrowth of solitary subependymal giant cell astrocytoma-case report. Neurol. Med. Chir. (Tokyo), 42 (5), 224-227.
42. Roszkowski, M., Drabik, K., Barszcz, S. et al. (1995) Surgical treatment of intraventricular tumors associated with tuberous sclerosis. Childs Nerv. Syst., 11 (6), 335-339.
43. Levine, N.B., Collins, J., Franz, D.N. et al. (2006) Gradual formation of an operative corridor by balloon dilation for resection of subependymal giant cell astrocytomas in children with tuberous sclerosis: specialized minimal access technique of balloon dilation. Minim. Invasive Neurosurg., 49 (5), 317-320.
44. Matsumura, H., Takimoto, H., Shimada, N. et al. (1998) Glioblastoma following radiotherapy in a patient with tuberous sclerosis. Neurol. Med. Chir. (Tokyo), 38 (5), 287-291.
45. Riemenschneider, M.J., Betensky, R.A., Pasedag, S.M. et al. (2006) AKT activation in human glioblastomas enhances proliferation via TSC2 and S6 kinase signaling. Cancer Res., 66 (11), 5618-5623.
46. Franz, D.N., Leonard, J., Tudor, C. et al. (2006) Rapamycin causes regression of astrocytomas in tuberous sclerosis complex. Ann. Neurol., 59 (3), 490-498.
47. Bissler, J.J., McCormack, F.X., Young, L.R. et al. (2008) Sirolimus for angiomyolipoma in tuberous sclerosis complex or lymphangioleiomyomatosis. N. Engl. J. Med., 358 (2), 190-192.
48. N. Engl. J. Med. 358 (19), 1963-4; author reply 1964.
49. Zeng, L.H., Xu, L., Gutmann, D.H. et al. (2008) Rapamycin prevents epilepsy in a mouse model of tuberous sclerosis complex. Ann. Neuro., 63 (4), 444-453.
50. Meikle, L., Pollizzi, K., Egnor, A. et al. (2008) Response of a neuronal model of tuberous sclerosis tomammalian target of rapamycin (mTOR) inhibitors: effects on mTORC1 and Akt signaling lead to improved survival and function. J. Neurosci., 28 (21), 5422-5432.
51. Ehninger, D.,Hans, S., Shilyansky, C. et al. (2008) Reversal learning deficits in a TSC 2{thorn}/-mouse model of tuberous sclerosis. Nat. Med., 14 (8), 843-848.