Titulo:
Everolimus y astrocitoma subependimario de células gigantes con degeneración quística.
.
Sumario:
El complejo esclerosis tuberosa (CET) se caracteriza por la presencia de hamartomas en múltiples órganos, incluyendo el cerebro. Entre el 5% y 20% de quienes lo padecen presentan astrocitomas subependimarios de células gigantes (SEGA, por su sigla en inglés), hallazgo que se asocia a una elevada tasa de morbimortalidad atribuible a hidrocefalia obstructiva. El manejo clásico de los SEGA consiste en la resección quirúrgica, intervención que se relaciona en la actualidad a medicamentos que modulan la vía de señalización mTOR. Experimentos clínicos recientes han demostrado una reducción consistente del volumen tumoral, lo que favorece el control de las crisis epilépticas, hecho que mejora la calidad de vida. A continuación, se presenta el caso... Ver más
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2256-2915
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2012-09-01
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Carlos Emilio Restrepo - 2012
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Everolimus y astrocitoma subependimario de células gigantes con degeneración quística. Everolimus and subependymal giant cell astrocytoma with cystic degeneration. El complejo esclerosis tuberosa (CET) se caracteriza por la presencia de hamartomas en múltiples órganos, incluyendo el cerebro. Entre el 5% y 20% de quienes lo padecen presentan astrocitomas subependimarios de células gigantes (SEGA, por su sigla en inglés), hallazgo que se asocia a una elevada tasa de morbimortalidad atribuible a hidrocefalia obstructiva. El manejo clásico de los SEGA consiste en la resección quirúrgica, intervención que se relaciona en la actualidad a medicamentos que modulan la vía de señalización mTOR. Experimentos clínicos recientes han demostrado una reducción consistente del volumen tumoral, lo que favorece el control de las crisis epilépticas, hecho que mejora la calidad de vida. A continuación, se presenta el caso de un paciente de 16 años con diagnóstico de CET, a quien se documentó un SEGA con degeneración quística tratado después de dos resecciones quirúrgicas secuenciales con everolimus; dicho manejo permitió una respuesta parcial máxima asociada a la desaparición de otras manifestaciones neurológicas. La utilidad de medicamentos dirigidos a modular blancos moleculares específicos representa una opción terapéutica real en pacientes con el CET que presentan SEGA. The tuberous sclerosis complex (TSC) is characterized by the presence of hamartomas in many organs, including the brain; 5% to 20% of those suffering from TSC present subependymal giant cell astrocytoma (SEGA), such finding being associated with a high rate of morbimortality attributable to obstructive hydrocephalus. The classical management of SEGAs consists of surgical resection, such intervention being currently associated with drugs modulating the mTOR signalling pathway. Recent clinical trials have demonstrated that consistent tumor volume reduction has promoted the control of epileptic crises, thereby improving the quality of life. The case of a 16-year-old TSC patient is presented below who was diagnosed with SEGA accompanied by cystic degeneration treated with everolimus following two sequential surgical resections; such management led to a maximum partial response associated with the disappearance of other neurological manifestations. The efficacy of drugs directed to modulate specific molecular targets represent a real treatment option for patients with tuberous sclerosis and SEGA. Restrepo, Carlos Emilio Cardona, Andrés Felipe Mayor, Luis Carlos Jiménez, Enrique complejo esclerosis tuberosa astrocitoma subependimario de células gigantes mTOR everolimus hamartina tuberina tuberous sclerosis complex subependymal giant cell astrocytoma mTOR everolimus hamartin tuberin 1 3 Núm. 3 , Año 2012 : Septiembre Artículo de revista Journal article 2012-09-01T00:00:00Z 2012-09-01T00:00:00Z 2012-09-01 application/pdf Asociación Colombiana de Hematología y Oncología (ACHO) Revista Colombiana de Hematología y Oncología 2256-2877 2256-2915 https://revista.acho.info/index.php/acho/article/view/315 10.51643/22562915.315 https://doi.org/10.51643/22562915.315 spa https://creativecommons.org/licenses/by-nc-sa/4.0 Carlos Emilio Restrepo - 2012 Esta obra está bajo una licencia internacional Creative Commons Atribución-NoComercial-CompartirIgual 4.0. 65 72 Osborne JP, Fryer A, Webb D. Epidemiology of tuberous sclerosis. Ann N Y Acad Sci. 1991;615:125-7. Crino PB, Nathanson KL, Henske EP. The tuberous sclerosis complex. N Engl J Med. 2006;355(13):1345-56. Curatolo P, Bombardieri R, Jozwiak S. Tuberous sclerosis. Lancet. 2008;372(9639):657-68. Ehninger D, de Vries PJ, Silva AJ. From mTOR to cognition: molecular and cellular mechanisms of cognitive impairments in tuberous sclerosis. J Intellect Disabil Res. 2009;53(10):838-51. Adriaensen ME, Schaefer-Prokop CM, Stijnen T, Duyndam DA, Zonnenberg BA, Prokop M. Prevalence of subependymal giant cell tumors in patients with tuberous sclerosis and a review of the literature. Eur J Neurol. 2009;16(6):691-6. Chan JA, Zhang H, Roberts PS, Jozwiak S, Wieslawa G, LewinKowalik J, et al. Pathogenesis of tuberous sclerosis subependymal giant cell astrocytomas: biallelic inactivation of TSC1 or TSC2 leads to mTOR activation. J Neuropathol Exp Neurol. 2004;63(12):1236-42. Goh S, Butler W, Thiele EA. Subependymal giant cell tumors in tuberous sclerosis complex. Neurology. 2004;63(8):1457-61. de Ribaupierre S, Dorfmüller G, Bulteau C, Fohlen M, Pinard JM, Chiron C, et al. Subependymal giant-cell astrocytomas in pediatric tuberous sclerosis disease: when should we operate? Neurosurgery. 2007;60(1):83-9. Wong M. Mammalian target of rapamycin (mTOR) inhibition as a potential antiepileptogenic therapy: from tuberous sclerosis to common acquired epilepsies. Epilepsia. 2010;51(1):27-36. Inoki K, Guan KL. Tuberous sclerosis complex, implication from a rare genetic disease to common cancer treatment. Hum Mol Genet. 2009;18(R1):R94-100. Mieulet V, Lamb RF. Tuberous sclerosis complex: linking cancer to metabolism. Trends Mol Med. 2010;16(7):329-35. Krueger DA, Care MM, Holland K, Agricola K, Tudor C, Mangeshkar P, et al. Everolimus for subependymal giant-cell astrocytomas in tuberous sclerosis. N Engl J Med. 2010;363(19):1801-11. Ekici MA, Kumandas S, Per H, Ekici A, Tucer B, Gumus H, et al. Surgical timing of the subependymal giant cell astrocytoma (SEGA) with the patients of tuberous sclerosis complex. Turk Neurosurg. 2011;21(3):315-24. Sampson JR. Therapeutic targeting of mTOR in tuberous sclerosis. Biochem Soc Trans. 2009;37(Pt 1):259-64. Berhouma M. Management of subependymal giant celltumors in tuberous sclerosis complex: the neurosurgeon’s perspective. World J Pediatr. 2010;6(2):103-10. Kim SK, Wang KC, Cho BK, Jung HW, Lee YJ, Chung YS, et al. Biological behavior and tumorigenesis of subependymal giant cell astrocytomas. J Neurooncol. 2001;52(3):217-25. Sugita Y, Taguchi A, Miyagi J, Yuge T, Tomita T, Shigemori M, et al. The cystic growth of a subependymal giantcell astrocytoma with tuberous sclerosis. Kurume Med J. 1992;39(2):123-8. Cuccia V, Zuccaro G, Sosa F, Monges J, Lubienieky F, Taratuto AL. Subependymal giant cell astrocytoma in children with tuberous sclerosis. Childs Nerv Syst. 2003;19(4):232-43. Kumar R, Singh V. Subependymal giant cell astrocytoma: a report of five cases. Neurosurg Rev. 2004;27(4):274-80. Napolioni V, Moavero R, Curatolo P. Recent advances in neurobiology of Tuberous Sclerosis Complex. Brain Dev. 2009;31(2):104-13. Young J, Povey S. The genetic basis of tuberous sclerosis. Mol Med Today. 1998;4(7):313-9. Brugarolas J, Lei K, Hurley RL, Manning BD, Reiling JH, Hafen E, et al. Regulation of mTOR function in response to hypoxia by REDD1 and the TSC1/TSC2 tumor suppressor complex. Genes Dev. 2004;18(23):2893-904. Ellisen LW. Growth control under stress: mTOR regulation through the REDD1-TSC pathway. Cell Cycle. 2005;4(11):1500- 02. Bissler JJ, McCormack FX, Young LR, Elwing JM, Chuck G, Leonard JM, et al. Sirolimus for angiomyolipoma in tuberous sclerosis complex or lymphangioleiomyomatosis. N Engl J Med. 2008;358(2):140-51. Davies DM, Johnson SR, Tattersfield AE, Kingswood JC, Cox JA, McCartney DL, et al. Sirolimus therapy in tuberous scle rosis or sporadic lymphangioleiomyomatosis. N Engl J Med. 2008;358(2):200-3. Tiberio D, Franz DN, Phillips JR. Regression of a cardiac rhabdomyoma in a patient receiving everolimus. Pediatrics. 2011;127(5):e1335-7. Hofbauer GF, Marcollo-Pini A, Corsenca A, Kistler AD, French LE, Wüthrich RP, et al. The mTOR inhibitor rapamycin significantly improves facial angiofibroma lesions in a patient with tuberous sclerosis. Br J Dermatol. 2008;159(2):473-5. Mutizwa MM, Berk DR, Anadkat MJ. Treatment of facial angiofibromas with topical application of oral rapamycin solution (1mgmL(-1)) in two patients with tuberous sclerosis. Br J Dermatol. 2011;165(4):922-3. Franz DN, Leonard J, Tudor C, Chuck G, Care M, Sethuraman G, et al. Rapamycin causes regression of astrocytomas in tuberous sclerosis complex. Ann Neurol. 2006;59(3):490-8. Koenig MK, Butler IJ, Northrup H. Regression of subependymal giant cell astrocytoma with rapamycin in tuberous sclerosis complex. J Child Neurol. 2008;23(10):1238-9. Lam C, Bouffet E, Tabori U, Mabbott D, Taylor M, Bartels U. Rapamycin (sirolimus) in tuberous sclerosis associated pediatric central nervous system tumors. Pediatr Blood Cancer. 2010;54(3):476-9. Birca A, Mercier C, Major P. Rapamycin as an alternative to surgical treatment of subependymal giant cell astrocytomas in a patient with tuberous sclerosis complex. J Neurosurg Pediatr. 2010;6(4):381-4. Yalon M, Ben-Sira L, Constantini S, Toren A. Regression of subependymal giant cell astrocytomas with RAD001 (Everolimus) in tuberous sclerosis complex. Childs Nerv Syst. 2011;27(1):179-81. Erbayat-Altay E, Zeng LH, Xu L, Gutmann D, Wong M. The natural history and treatment of epilepsy in a murine model of tuberous sclerosis. Epilepsia. 2007;48(8):1470-6. Zeng LH, Xu L, Gutmann DH, Wong M. Rapamycin prevents epilepsy in a mouse model of tuberous sclerosis complex. Ann Neurol. 2008;63(4):444-53. Ehninger D, Han S, Shilyansky C, Zhou Y, Li W, Kwiatkowski DJ, et al. Reversal of learning deficits in a Tsc2+/- mouse model of tuberous sclerosis. Nat Med. 2008;14(8):843-8. Tillema JM, Leach JL, Krueger DA, Franz DN. Everolimus alters white matter diffusion in tuberous sclerosis complex. Neurology. 2012;78(8):526-31. Pascual-Castroviejo I, Pascual-Pascual SI, Velázquez-Fragua R, Viaño J, Carceller F, Hernández-Moneo JL, et al. [Subependymal giant cell astrocytoma in tuberous sclerosis complex. A presentation of eight paediatric patients]. Neurología. 2010;25(5):314-21. Campen CJ, Porter BE. Subependymal Giant Cell Astrocytoma (SEGA) Treatment Update. Curr Treat Options Neurol. 2011;13(4):380-5. Nawashiro H, Shinomiya N. Everolimus and giantcell astrocytomas in tuberous sclerosis. N Engl J Med. 2011;364(6):576-7. https://revista.acho.info/index.php/acho/article/download/315/282 info:eu-repo/semantics/article http://purl.org/coar/resource_type/c_6501 info:eu-repo/semantics/publishedVersion http://purl.org/coar/version/c_970fb48d4fbd8a85 info:eu-repo/semantics/openAccess http://purl.org/coar/access_right/c_abf2 Text Publication |
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ASOCIACION COLOMBIANA DE HEMATOLOGIA Y ONCOLOGIA |
| thumbnail |
https://nuevo.metarevistas.org/ASOCIACIONCOLOMBIANADEHEMATOLOGIAYONCOLOGIA/logo.png |
| country_str |
Colombia |
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Revista Colombiana de Hematología y Oncología |
| title |
Everolimus y astrocitoma subependimario de células gigantes con degeneración quística. |
| spellingShingle |
Everolimus y astrocitoma subependimario de células gigantes con degeneración quística. Restrepo, Carlos Emilio Cardona, Andrés Felipe Mayor, Luis Carlos Jiménez, Enrique complejo esclerosis tuberosa astrocitoma subependimario de células gigantes mTOR everolimus hamartina tuberina tuberous sclerosis complex subependymal giant cell astrocytoma mTOR everolimus hamartin tuberin |
| title_short |
Everolimus y astrocitoma subependimario de células gigantes con degeneración quística. |
| title_full |
Everolimus y astrocitoma subependimario de células gigantes con degeneración quística. |
| title_fullStr |
Everolimus y astrocitoma subependimario de células gigantes con degeneración quística. |
| title_full_unstemmed |
Everolimus y astrocitoma subependimario de células gigantes con degeneración quística. |
| title_sort |
everolimus y astrocitoma subependimario de células gigantes con degeneración quística. |
| title_eng |
Everolimus and subependymal giant cell astrocytoma with cystic degeneration. |
| description |
El complejo esclerosis tuberosa (CET) se caracteriza por la presencia de hamartomas en múltiples órganos, incluyendo el cerebro. Entre el 5% y 20% de quienes lo padecen presentan astrocitomas subependimarios de células gigantes (SEGA, por su sigla en inglés), hallazgo que se asocia a una elevada tasa de morbimortalidad atribuible a hidrocefalia obstructiva. El manejo clásico de los SEGA consiste en la resección quirúrgica, intervención que se relaciona en la actualidad a medicamentos que modulan la vía de señalización mTOR. Experimentos clínicos recientes han demostrado una reducción consistente del volumen tumoral, lo que favorece el control de las crisis epilépticas, hecho que mejora la calidad de vida. A continuación, se presenta el caso de un paciente de 16 años con diagnóstico de CET, a quien se documentó un SEGA con degeneración quística tratado después de dos resecciones quirúrgicas secuenciales con everolimus; dicho manejo permitió una respuesta parcial máxima asociada a la desaparición de otras manifestaciones neurológicas. La utilidad de medicamentos dirigidos a modular blancos moleculares específicos representa una opción terapéutica real en pacientes con el CET que presentan SEGA.
|
| description_eng |
The tuberous sclerosis complex (TSC) is characterized by the presence of hamartomas in many organs, including the brain; 5% to 20% of those suffering from TSC present subependymal giant cell astrocytoma (SEGA), such finding being associated with a high rate of morbimortality attributable to obstructive hydrocephalus. The classical management of SEGAs consists of surgical resection, such intervention being currently associated with drugs modulating the mTOR signalling pathway. Recent clinical trials have demonstrated that consistent tumor volume reduction has promoted the control of epileptic crises, thereby improving the quality of life. The case of a 16-year-old TSC patient is presented below who was diagnosed with SEGA accompanied by cystic degeneration treated with everolimus following two sequential surgical resections; such management led to a maximum partial response associated with the disappearance of other neurological manifestations. The efficacy of drugs directed to modulate specific molecular targets represent a real treatment option for patients with tuberous sclerosis and SEGA.
|
| author |
Restrepo, Carlos Emilio Cardona, Andrés Felipe Mayor, Luis Carlos Jiménez, Enrique |
| author_facet |
Restrepo, Carlos Emilio Cardona, Andrés Felipe Mayor, Luis Carlos Jiménez, Enrique |
| topicspa_str_mv |
complejo esclerosis tuberosa astrocitoma subependimario de células gigantes mTOR everolimus hamartina tuberina |
| topic |
complejo esclerosis tuberosa astrocitoma subependimario de células gigantes mTOR everolimus hamartina tuberina tuberous sclerosis complex subependymal giant cell astrocytoma mTOR everolimus hamartin tuberin |
| topic_facet |
complejo esclerosis tuberosa astrocitoma subependimario de células gigantes mTOR everolimus hamartina tuberina tuberous sclerosis complex subependymal giant cell astrocytoma mTOR everolimus hamartin tuberin |
| citationvolume |
1 |
| citationissue |
3 |
| citationedition |
Núm. 3 , Año 2012 : Septiembre |
| publisher |
Asociación Colombiana de Hematología y Oncología (ACHO) |
| ispartofjournal |
Revista Colombiana de Hematología y Oncología |
| source |
https://revista.acho.info/index.php/acho/article/view/315 |
| language |
spa |
| format |
Article |
| rights |
https://creativecommons.org/licenses/by-nc-sa/4.0 Carlos Emilio Restrepo - 2012 Esta obra está bajo una licencia internacional Creative Commons Atribución-NoComercial-CompartirIgual 4.0. info:eu-repo/semantics/openAccess http://purl.org/coar/access_right/c_abf2 |
| references |
Osborne JP, Fryer A, Webb D. Epidemiology of tuberous sclerosis. Ann N Y Acad Sci. 1991;615:125-7. Crino PB, Nathanson KL, Henske EP. The tuberous sclerosis complex. N Engl J Med. 2006;355(13):1345-56. Curatolo P, Bombardieri R, Jozwiak S. Tuberous sclerosis. Lancet. 2008;372(9639):657-68. Ehninger D, de Vries PJ, Silva AJ. From mTOR to cognition: molecular and cellular mechanisms of cognitive impairments in tuberous sclerosis. J Intellect Disabil Res. 2009;53(10):838-51. Adriaensen ME, Schaefer-Prokop CM, Stijnen T, Duyndam DA, Zonnenberg BA, Prokop M. Prevalence of subependymal giant cell tumors in patients with tuberous sclerosis and a review of the literature. Eur J Neurol. 2009;16(6):691-6. Chan JA, Zhang H, Roberts PS, Jozwiak S, Wieslawa G, LewinKowalik J, et al. Pathogenesis of tuberous sclerosis subependymal giant cell astrocytomas: biallelic inactivation of TSC1 or TSC2 leads to mTOR activation. J Neuropathol Exp Neurol. 2004;63(12):1236-42. Goh S, Butler W, Thiele EA. Subependymal giant cell tumors in tuberous sclerosis complex. Neurology. 2004;63(8):1457-61. de Ribaupierre S, Dorfmüller G, Bulteau C, Fohlen M, Pinard JM, Chiron C, et al. Subependymal giant-cell astrocytomas in pediatric tuberous sclerosis disease: when should we operate? Neurosurgery. 2007;60(1):83-9. Wong M. Mammalian target of rapamycin (mTOR) inhibition as a potential antiepileptogenic therapy: from tuberous sclerosis to common acquired epilepsies. Epilepsia. 2010;51(1):27-36. Inoki K, Guan KL. Tuberous sclerosis complex, implication from a rare genetic disease to common cancer treatment. Hum Mol Genet. 2009;18(R1):R94-100. Mieulet V, Lamb RF. Tuberous sclerosis complex: linking cancer to metabolism. Trends Mol Med. 2010;16(7):329-35. Krueger DA, Care MM, Holland K, Agricola K, Tudor C, Mangeshkar P, et al. Everolimus for subependymal giant-cell astrocytomas in tuberous sclerosis. N Engl J Med. 2010;363(19):1801-11. Ekici MA, Kumandas S, Per H, Ekici A, Tucer B, Gumus H, et al. Surgical timing of the subependymal giant cell astrocytoma (SEGA) with the patients of tuberous sclerosis complex. Turk Neurosurg. 2011;21(3):315-24. Sampson JR. Therapeutic targeting of mTOR in tuberous sclerosis. Biochem Soc Trans. 2009;37(Pt 1):259-64. Berhouma M. Management of subependymal giant celltumors in tuberous sclerosis complex: the neurosurgeon’s perspective. World J Pediatr. 2010;6(2):103-10. Kim SK, Wang KC, Cho BK, Jung HW, Lee YJ, Chung YS, et al. Biological behavior and tumorigenesis of subependymal giant cell astrocytomas. J Neurooncol. 2001;52(3):217-25. Sugita Y, Taguchi A, Miyagi J, Yuge T, Tomita T, Shigemori M, et al. The cystic growth of a subependymal giantcell astrocytoma with tuberous sclerosis. Kurume Med J. 1992;39(2):123-8. Cuccia V, Zuccaro G, Sosa F, Monges J, Lubienieky F, Taratuto AL. Subependymal giant cell astrocytoma in children with tuberous sclerosis. Childs Nerv Syst. 2003;19(4):232-43. Kumar R, Singh V. Subependymal giant cell astrocytoma: a report of five cases. Neurosurg Rev. 2004;27(4):274-80. Napolioni V, Moavero R, Curatolo P. Recent advances in neurobiology of Tuberous Sclerosis Complex. Brain Dev. 2009;31(2):104-13. Young J, Povey S. The genetic basis of tuberous sclerosis. Mol Med Today. 1998;4(7):313-9. Brugarolas J, Lei K, Hurley RL, Manning BD, Reiling JH, Hafen E, et al. Regulation of mTOR function in response to hypoxia by REDD1 and the TSC1/TSC2 tumor suppressor complex. Genes Dev. 2004;18(23):2893-904. Ellisen LW. Growth control under stress: mTOR regulation through the REDD1-TSC pathway. Cell Cycle. 2005;4(11):1500- 02. Bissler JJ, McCormack FX, Young LR, Elwing JM, Chuck G, Leonard JM, et al. Sirolimus for angiomyolipoma in tuberous sclerosis complex or lymphangioleiomyomatosis. N Engl J Med. 2008;358(2):140-51. Davies DM, Johnson SR, Tattersfield AE, Kingswood JC, Cox JA, McCartney DL, et al. Sirolimus therapy in tuberous scle rosis or sporadic lymphangioleiomyomatosis. N Engl J Med. 2008;358(2):200-3. Tiberio D, Franz DN, Phillips JR. Regression of a cardiac rhabdomyoma in a patient receiving everolimus. Pediatrics. 2011;127(5):e1335-7. Hofbauer GF, Marcollo-Pini A, Corsenca A, Kistler AD, French LE, Wüthrich RP, et al. The mTOR inhibitor rapamycin significantly improves facial angiofibroma lesions in a patient with tuberous sclerosis. Br J Dermatol. 2008;159(2):473-5. Mutizwa MM, Berk DR, Anadkat MJ. Treatment of facial angiofibromas with topical application of oral rapamycin solution (1mgmL(-1)) in two patients with tuberous sclerosis. Br J Dermatol. 2011;165(4):922-3. Franz DN, Leonard J, Tudor C, Chuck G, Care M, Sethuraman G, et al. Rapamycin causes regression of astrocytomas in tuberous sclerosis complex. Ann Neurol. 2006;59(3):490-8. Koenig MK, Butler IJ, Northrup H. Regression of subependymal giant cell astrocytoma with rapamycin in tuberous sclerosis complex. J Child Neurol. 2008;23(10):1238-9. Lam C, Bouffet E, Tabori U, Mabbott D, Taylor M, Bartels U. Rapamycin (sirolimus) in tuberous sclerosis associated pediatric central nervous system tumors. Pediatr Blood Cancer. 2010;54(3):476-9. Birca A, Mercier C, Major P. Rapamycin as an alternative to surgical treatment of subependymal giant cell astrocytomas in a patient with tuberous sclerosis complex. J Neurosurg Pediatr. 2010;6(4):381-4. Yalon M, Ben-Sira L, Constantini S, Toren A. Regression of subependymal giant cell astrocytomas with RAD001 (Everolimus) in tuberous sclerosis complex. Childs Nerv Syst. 2011;27(1):179-81. Erbayat-Altay E, Zeng LH, Xu L, Gutmann D, Wong M. The natural history and treatment of epilepsy in a murine model of tuberous sclerosis. Epilepsia. 2007;48(8):1470-6. Zeng LH, Xu L, Gutmann DH, Wong M. Rapamycin prevents epilepsy in a mouse model of tuberous sclerosis complex. Ann Neurol. 2008;63(4):444-53. Ehninger D, Han S, Shilyansky C, Zhou Y, Li W, Kwiatkowski DJ, et al. Reversal of learning deficits in a Tsc2+/- mouse model of tuberous sclerosis. Nat Med. 2008;14(8):843-8. Tillema JM, Leach JL, Krueger DA, Franz DN. Everolimus alters white matter diffusion in tuberous sclerosis complex. Neurology. 2012;78(8):526-31. Pascual-Castroviejo I, Pascual-Pascual SI, Velázquez-Fragua R, Viaño J, Carceller F, Hernández-Moneo JL, et al. [Subependymal giant cell astrocytoma in tuberous sclerosis complex. A presentation of eight paediatric patients]. Neurología. 2010;25(5):314-21. Campen CJ, Porter BE. Subependymal Giant Cell Astrocytoma (SEGA) Treatment Update. Curr Treat Options Neurol. 2011;13(4):380-5. Nawashiro H, Shinomiya N. Everolimus and giantcell astrocytomas in tuberous sclerosis. N Engl J Med. 2011;364(6):576-7. |
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