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

References

Adriaensen, M.E., Schaefer-Prokop, C.M., Stijnen, T., Duyndam, D.A.C., Zonnenberg, B.A., and Prokop, M. (2009). Prevalence of subependymal giant cell tumors in patients with tuberous sclerosis and a review of the literature. Eur. J. Neurol. 16, 691–696.10.1111/j.1468-1331.2009.02567.xSearch in Google Scholar

Adriaensen, M.E., Zonnenberg, B.A., and De Jong, P.A. (2014). Natural history and CT scan follow-up of subependymal giant cell tumors in tuberous sclerosis complex patients. J. Clin. Neurosci. 21, 939–941.10.1016/j.jocn.2013.08.022Search in Google Scholar PubMed

Boorjian, S.A., Sheinin, Y., Crispen, P.L., Lohse, C.M., Kwon, E.D., and Leibovich, B.C. (2008). Hormone receptor expression in renal angiomyolipoma: clinicopathologic correlation. Urology. 72, 927–932.10.1016/j.urology.2008.01.067Search in Google Scholar PubMed

Chan, J.A., Zhang, H., Roberts, P.S., Jozwiak, S., Wieslawa, G., Lewin-Kowalik, J., Kotulska, K., and Kwiatkowski, D.J. (2004). Pathogenesis of tuberous sclerosis subependymal giant cell astrocytomas: biallelic inactivation of TSC1 or TSC2 leads to mTOR activation. J. Neuropathol. Exp. Neurol. 63, 1236–1242.10.1093/jnen/63.12.1236Search in Google Scholar PubMed

Chopra, M., Lawson, J.A., Wilson, M., Kennedy, S.E., Taylor, P., Buckley, M.F., Wargon, O., Parasivam, G., Camphausen, C., Yates, D., et al. (2011). An Australian tuberous sclerosis cohort: are surveillance guidelines being met? J. Paediatr. Child Health 47, 711–716.10.1111/j.1440-1754.2011.02038.xSearch in Google Scholar

Clarke, M.J., Foy, A.B., Wetjen, N., and Raffel, C. (2006). Imaging characteristics and growth of subependymal giant cell astrocytomas. Neurosurg. Focus 20, E5.10.3171/foc.2006.20.1.6Search in Google Scholar PubMed

Cuccia, V., Zuccaro, G., Sosa, F., Monges, J., Lubienieky, F., and Taratuto, A.L. (2003). Subependymal giant cell astrocytoma in children with tuberous sclerosis. Childs Nerv. Syst. 19, 232–243.10.1007/s00381-002-0700-2Search in Google Scholar

Curatolo, P., Bombardieri, R., and Jozwiak, S. (2008). Tuberous sclerosis. Lancet 372, 657–668.10.1016/S0140-6736(08)61279-9Search in Google Scholar PubMed

Dabora, S.L., Jozwiak, S., Franz, D.N., Roberts, P.S., Nieto, A., Chung, J., Choy, Y.S., Reeve, M.P., Thiele, E., Egelhoff, J.C., et al. (2001). Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs. Am. J. Hum. Genet. 68, 64–80.10.1086/316951Search in Google Scholar

Ewalt, D.H., Sheffield, E., Sparagana, S.P., Delgado, M.R., and Roach, E.S. (1998). Renal lesion growth in children with tuberous sclerosis complex. J. Urol. 160, 141–145.10.1016/S0022-5347(01)63072-6Search in Google Scholar PubMed

Franz, D.N., Belousova, E., Sparagana, S., Bebin, E.M., Frost, M., Kuperman, R., Witt, O., Kohrman, M.H., Flamini, J.R., Wu, J.Y., et al. (2013). Efficacy and safety of everolimus for subependymal giant cell astrocytomas associated with tuberous sclerosis complex (EXIST-1): a multicentre, randomised, placebo-controlled phase 3 trial. Lancet. 381, 125–132.10.1016/S0140-6736(12)61134-9Search in Google Scholar PubMed

Fujiwara, S., Takaki, T., Hikita, T., and Nishio, S. (1989). Subependymal giant-cell astrocytoma associated with tuberous sclerosis. Do subependymal nodules grow? Childs Nerv. Syst. 5, 43–44.10.1007/BF00706748Search in Google Scholar PubMed

Goh, S., Butler, W., and Thiele, E.A. (2004). Subependymal giant cell tumors in tuberous sclerosis complex. Neurology 63, 1457–1461.10.1212/01.WNL.0000142039.14522.1ASearch in Google Scholar PubMed

Grajkowska, W., Kotulska, K., Jurkiewicz, E., Roszkowski, M., Daszkiewicz, P., Jóźwiak, S., and Matyja, E. (2011). Subependymal giant cell astrocytomas with atypical histological features mimicking malignant gliomas. Folia Neuropathol. 49, 39–46.Search in Google Scholar PubMed

Henske, E.P., Wessner, L.L., Golden, J., Scheithauer, B.W., Vortmeyer, A.O., Zhuang, Z., Klein-Szanto, A.J., Kwiatkowski, D.J., and Yeung, R.S. (1997). Loss of tuberin in both subependymal giant cell astrocytomas and angiomyolipomas supports a two-hit model for the pathogenesis of tuberous sclerosis tumors. Am. J. Pathol. 151, 1639–1647.Search in Google Scholar PubMed

Jiang, T., Jia, G., Ma, Z., Luo, S., and Zhang, Y. (2011). The diagnosis and treatment of subependymal giant cell astrocytoma combined with tuberous sclerosis. Childs Nerv. Syst. 27, 55–62.10.1007/s00381-010-1159-1Search in Google Scholar PubMed

Jóźwiak, S., Kwiatkowski, D., Kotulska, K., Larysz-Brysz, M., Lewin-Kowalik, J., Grajkowska, W., and Roszkowski, M. (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, 102–106.10.1177/08830738040190020401Search in Google Scholar PubMed

Jóźwiak, S., Nabbout, R., and Curatolo, P., participants of the TSC Consensus Meeting for SEGA and Epilepsy Management. (2013). Management of subependymal giant cell astrocytoma (SEGA) associated with tuberous sclerosis complex (TSC): clinical recommendations. Eur. J. Paediatr. Neurol. 17, 348–352.10.1016/j.ejpn.2012.12.008Search in Google Scholar PubMed

Kingswood, J.C., D’Augères, G.B., Belousova, E., Ferreira, J.C., Carter, T., Castellana, R., Cottin, V., Curatolo, P., Dahlin, M., de Vries, P.J., et al. (2017). TuberOus SClerosis registry to increase disease Awareness (TOSCA) – baseline data on 2093 patients. Orphanet J. Rare Dis. 12, 2.10.1186/s13023-016-0553-5Search in Google Scholar PubMed PubMed Central

Kothare, S.V., Singh, K., Chalifoux, J.R., Staley, B.A., Weiner, H.L., Menzer, K., and Devinsky, O. (2014). Severity of manifestations in tuberous sclerosis complex in relation to genotype. Epilepsia 55, 1025–1029.10.1111/epi.12680Search in Google Scholar PubMed

Kotulska, K., Borkowska, J., Mandera, M., Roszkowski, M., Jurkiewicz, E., Grajkowska, W., Bilska, M., and Jóźwiak, S. (2014a). Congenital subependymal giant cell astrocytomas in patients with tuberous sclerosis complex. Childs Nerv. Syst. 30, 2037–2042.10.1007/s00381-014-2555-8Search in Google Scholar PubMed PubMed Central

Kotulska, K., Borkowska, J., Roszkowski, M., Mandera, M., Daszkiewicz, P., Drabik, K., Jurkiewicz, E., Larysz-Brysz, M., Nowak, K., Grajkowska, W., et al. (2014b). Surgical treatment of subependymal giant cell astrocytoma in tuberous sclerosis complex patients. Pediatr. Neurol. 50, 307–312.10.1016/j.pediatrneurol.2013.12.004Search in Google Scholar PubMed

Krueger, D.A., Care, M.M., Agricola, K., Tudor, C., Mays, M., and Franz, D.N. (2013). Everolimus long-term safety and efficacy in subependymal giant cell astrocytoma. Neurology 80, 574–580.10.1212/WNL.0b013e3182815428Search in Google Scholar PubMed PubMed Central

Lagos, J.C. and Gomez, M.R. (1967). Tuberous sclerosis: reappraisal of a clinical entity. Mayo Clinic Proc. 42, 26–49.Search in Google Scholar

Louis, D.N., Ohgaki, H., Wiestler, O.D., and Cavenee, W.K. (2016). World Health Organisation Classification of Tumours of the Central Nervous System. 4th ed. (France: International Agency for Research on Cancer).Search in Google Scholar

Martin, K.R., Zhou, W., Bowman, M.J., Shih, J., Au, K.S., Dittenhafer-Reed, K.E., Sisson, K.A., Koeman, J., Weisenberger, D.J., Cottingham, S.L., et al. (2017). The genomic landscape of tuberous sclerosis complex. Nat. Commun. 8, 15816.10.1038/ncomms15816Search in Google Scholar PubMed PubMed Central

Menor, F., Marti-Bonmati, L., Mulas, F., Poyatos, C., and Cortina, H. (1992). Neuroimaging in tuberous sclerosis: a clinicoradiological evaluation in pediatric patients. Pediatr. Radiol. 22, 485–489.10.1007/BF02012989Search in Google Scholar PubMed

Moavero, R., Coniglio, A., Garaci, F., and Curatolo, P. (2013). Is mTOR inhibition a systemic treatment for tuberous sclerosis? Ital. J. Pediatr. 39, 57.10.1186/1824-7288-39-57Search in Google Scholar PubMed PubMed Central

Nabbout, R., Santos, M., Rolland, Y., Delalande, O., Dulac, O., and Chiron, C. (1999). Early diagnosis of subependymal giant cell astrocytoma in children with tuberous sclerosis. J. Neurol. Neurosurg. Psychiatry 66, 370–375.10.1136/jnnp.66.3.370Search in Google Scholar PubMed PubMed Central

Northrup, H. and Krueger, D.A., and on behalf of the International Tuberous Sclerosis Complex Concensus Group. (2013). Tuberous sclerosis complex diagnostic criteria update: recommendations of the 2012 international tuberous sclerosis complex consensus conference. Pediatr. Neurol. 49, 243–254.10.1016/j.pediatrneurol.2013.08.001Search in Google Scholar PubMed PubMed Central

O’Callaghan, F.J.K., Martyn, C.N., Renowden, S., Noakes, M., Presdee, D., and Osborne, J.P. (2008). Subependymal nodules, giant cell astrocytomas and the tuberous sclerosis complex: a population based study. Arch. Dis. Child. 93, 751–754.10.1136/adc.2007.125880Search in Google Scholar PubMed

Osborne, J.P., Fryer, A., and Webb, D. (1991). Epidemiology of tuberous sclerosis. Ann. N. Y. Acad. Sci. 615, 125–127.10.1111/j.1749-6632.1991.tb37754.xSearch in Google Scholar PubMed

Park, K.J., Kano, H., Kondziolka, D., Niranjan, A., Flickinger, J.C., and Lunsford, L.D. (2011). Gamma knife surgery for subependymal giant cell astrocytomas. J. Neurosurg. 114, 808–813.10.3171/2010.9.JNS10816Search in Google Scholar PubMed

Raju, G.P., Urion, D.K., and Sahin, M. (2007). Neonatal subependymal giant cell astrocytoma: new case and review of literature. Pediatr. Neurol. 36, 128–131.10.1016/j.pediatrneurol.2006.08.009Search in Google Scholar PubMed

Roth, J., Roach, E.S., Bartels, U., Jóźwiak, S., Koenig, M.K., Weiner, H.L., Franz, D.N., and Wang, H.Z. (2013). Subependymal giant cell astrocytoma: diagnosis, screening, and treatment. Recommendations from the international tuberous sclerosis complex consensus conference 2012. Pediatr. Neurol. 49, 439–444.10.1016/j.pediatrneurol.2013.08.017Search in Google Scholar PubMed

Russell, D.S., Rubenstein, L.J., and Lumsden, C.E. (1959). Tuberose Sclerose (Bourneville’s disease), Subependymal Giant-Cell Astrocytomas: Tuberose Sclerosis, Spongio Neuroblastoma and Tuberose Sclerosis. Pathology of Tumours of the Nervous System. D.S. Russell and L.J. Rubenstein, eds. (London, UK: Edward Arnold), pp. 29–30, 105–106, 169.Search in Google Scholar

Torres, O.A., Roach, E.S., Delgado, M.R., Sparagana, S.P., Sheffield, E., Swift, D., and Bruce, D. (1998). Early diagnosis of subependymal giant cell astrocytoma in patients with tuberous sclerosis. J. Child Neurol. 13, 173–177.10.1177/088307389801300405Search in Google Scholar PubMed

Tsai, J.D., Wei, C.C., Tsao, T.F., Hsiao, Y.P., Tsai, H.J., Yang, S.H., Tsai, M.L., and Sheu, J.N. (2016). Association between the growth rate of subependymal giant cell astrocytoma and age in patients with tuberous sclerosis complex. Childs Nerv. Syst. 32, 89–95.10.1007/s00381-015-2947-4Search in Google Scholar PubMed