Abstract
INTRODUCTION: The Tuberous Sclerosis Complex (TSC) is the mainstay of malformation related to alterations in cellular growth and differentiation, with highly variable phenotypes, and systemic impact.
OBJETIVES: To characterize and describe TSC to facilitate understanding of the neurodermatosis in the Colombian population.
MATERIALS AND METHODS: Information was obtained from searches performed in MEDLINE, BIOSIS, and EMBASE from 1966, 1994 and 1974, respectively, until March 1, 2011, using the OVID platform and multiple key terms. Additional strategies were designed for other databases like LILACS, CINAHL and Best Evidence using similar criteria. We also collected data from scientific societies related to the topic under study.
RESULTS: the diagnostic criteria have not been modified instead molecular characterizations leads to a better understanding of the disease. The characterization of pathogenesis leads to the development of target therapies against those molecular alterations. mTOR pathway explains phenotypic alterations in patients suffering of TSC.
CONCLUSION: the document of the Colombian Consensus for the Neurodermathosis, wants to show an integral review of the knowledge about the development, diagnosis and treatment of TSC.
References
Test and teach. Explanation and diagnosis: subependymal giant cell astrocytoma. Pathology 1999; 31: 51.
ESS KC, KAMP CA, TU BP, GUTMANN DH. Developmental origin of subependymal giant cell astrocytoma in tuberous sclerosis complex. Neurology. 2005;64:1446-1449.
KRUEGER DA, FRANZ DN. Current management of tuberous sclerosis complex. Paediatr Drugs. 2008;10:299-313.
CRINO PB, ARONICA E, BALTUCH G, NATHANSON KL. Biallelic TSC gene inactiva-tion in tuberous sclerosis complex.. Neurology® 2010;74:1716-1723
PASCUAL-CASTROVIEJO I, PASCUAL SI, VELÁZQUEZ R, VIAÑO J, CARCELLER F, HERNÁNDEZ JL, ET AL. Astrocitoma subependi-mario de células gigantes en el complejo de Esclerosis tuberosa. Presentación de ocho pacientes infantiles. Neurología. 2010;5:314-321.
HYMAN MH, WHITTEMORE VH. National Institutes of Health consensus conference: Tuberous sclerosis complex. Arch Neurol2000;57: 662-665.
TAKATA K, GASPARETTO EL, LEITE CDA C, LUCATO LT, REED UC, MATUSHITA H, ET AL. Subependymal giant cell astrocytoma in patients with tuberous sclerosis: magnetic resonance imaging findings in ten cases. ArqNeuropsiquiatr. 2007;65:313-316.
HAHN JS, BEJAR R, GLADSON CL. Neonatal subependymal giant cell astrocytoma associated with tuberous sclerosis: MRI, CT and ultrasound correlation. Neurology. 1991;41:124-128.
MEDHKOUR A, TRAUL D, HUSAIN N. Neonatal subependymal giant cell astrocytoma. Pediatr Neurosurg. 2002;36:271-4.
HUSSAIN N, CURRAN A, PILLING D, MAL-LUCI CL, LADUSANS EJ, ALFIREVIC Z, ET AL. Congenital subependymal giant cell astrocytoma diagnosed on fetal MRI. Arch Dis Child. 2006;91:520.
DIMARIO FJ JR. Brain Abnormalities in Tuberous Sclerosis Complex. J Child Neurol. 2004;19:650-657.
NAPOLIONI V, MOAVERO R, CURATOLO P. Recent advances in neurobiology of Tuberous Sclerosis Complex. Brain & Development 2009;31: 104-113.
ROACH ES, GOMEZ MR, NORTHRUP H. Tuberous sclerosis complex consensus conference: revised clinical diagnostic criteria. J Child Neurol. 1998;13:624-628.
ROACH ES, SPARAGANA SP. Diagnosis of tuberous sclerosis complex. J Child Neurol. 2004;19:643-649.
HUSON SM, KORF BR. The Phakomatoses; in: Rimoin DL, Connor JM, Pyeritz RE, Korf BR eds; Principles and practice of medical genetics, 5th Ed. Edinburgh: Churcill Livingstone 2007; 2817-2850.
OSBORNE JP, FRYER A, WEBB D. Epidemiology of tuberous sclerosis. Ann N Y Acad Sci. 1999;615:125-127.
SAMPSON JR, MAHESHWAR MM, ASPIN-WALL R, THOMPSON P, CHEADLE JP, RAVINE D, ET AL. Renal cystic disease in tuberous sclerosis: role of the polycystic kidney disease 1 gene. Am J Hum Genet. 1997;61:843-851.
VERHOEF S, BAKKER L, TEMPELAARS AM, HESSELING-JANSSEN AL, MAZURCZAK T, JOZ-WIAK S, ET AL. High rate of mosaicism in tuberous sclerosis complex. Am J Hum Genet. 999;64:1632-1637.
ICHIKAWA T, WAKISAKA A, DAIDO S, TAKAO S, TAMIYA T, DATE I, ET AL. A Case of Solitary Subependymal Giant Cell Astrocytoma Two Somatic Hits of TSC2 in the Tumor, without Evidence of Somatic Mosaicism. JMolDiagn. 2005;7:544-549.
YOUNG J, POVEY S. The genetic basis of tuberous sclerosis. Mol Med Today.1998;4:313-19.
THOMAS G, HALL MN. TOR signalling and control of cell growth. Curr Opin Cell Biol. 1997;9:782-787.
SEPP T, YATES JR, GREEN AJ. Loss of heterozygosity in tuberous sclerosis hamartomas. J Med Genet 1996;33:962-964.
NIIDA Y, STEMMER-RACHAMIMOV AO, LOGRIP M, TAPON D, PEREZ R, KWIATKOWSKI DJ, ET AL. Survery of somatic mutations in tuberous sclerosis complex (TSC) hamartomas suggests different genetic mechanisms for pathogenesis of TSC lesions. Am J Hum Genet 2001;69:493-503.
JONES AC, DANIELLS CE, SNELL RG, TACH-ATAKI M, IDZIASZCZYK SA, KRAWCZAK M, ET AL. Molecular genetic and phenotypic analysis reveals differences between TSC1 y TSC2 associated familial and sporadic tuberous sclerosis. Hum Mol Genet. 1997;6:2155-2161.
AU KS, WILLIAMS AT, ROACH ES, BATCH-ELOR L, SPARAGANA SP, DELGADO MR, ET AL. Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States. Genet Med. 2007;9:88-100.
DABORA SL, JOZWIAK S, FRANZ DN, ROBERTS PS, NIETO A, CHUNG J, ET AL. 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. 2001;68:64-80.
JONES AC, SHYAMSUNDAR MM, THOMAS MW, MAYNARD J, IDZIASZCZYK S, TOMKINS S, ET AL. Comprehensive mutation analysis of TSC1 and TSC2-and phenotypic correlations in 150 families with tuberous sclerosis. Am J Hum Genet. 1999;64:1305-1315.
LIZCANO-GIL LA, LUCENA C, LUCENA E. Methods in preimplantation genetic diagnosis. Reprod Biomed. Online 2001;2:20-31.
KYRITSIS AP, BONDY ML, RAO JS, SIOKA C. Inherited predisposition to glioma. Neurooncol. 2010;12:104-113.
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;16:691-695.
MALDONADO M, BAYBIS M, NEWMAN D, ET AL. Expression of ICAM-1, TNF-alpha, NF kappa B, and MAP kinase in tubers of the tuberous sclerosis complex. Neurobiol Dis 2003;14:279-290.
Gómez M, Sampson J, Whittemore V, eds. The tuberous sclerosis complex. 3th Ed. Oxford, England: Oxford University Press, 1999.
CHAN JA, ZHANG H, ROBERTS PS, JOZWIAK S, WIESLAWA G, LEWIN-KOWALIK J, ET AL. Pathogenesis of tuberous sclerosis subependymal giant cell astrocytomas: biallelic inactivation of TSC1 or TSC2 leads to mTOR activation. J NeuropatholExp Neurol. 2004;63:1236-1242.
YOU H, KIM YI, IM SY, SUH-KIM H, PAEK SH, PARK SH, ET AL. Immunohistochemical study of central neurocytoma, subependymoma, and subependymal giant cell astrocytoma. J Neurooncol. 2005;74:1-8.
SHEPHERD CW, SCHEITHAUER BW, GOMEZ MR, ALTERMATT HJ, KATZMANN JA. Subependymal giant cell astrocytoma: a clinical, pathological, and flow cytometric study. Neurosurg. 1991;28:864-868.
JOZWIAK J, JOZWIAK S, SKOPINSKI P. Immunohistochemical and microscopic studies on giant cells in tuberous sclerosis. Histol Histopathol. 2005;20:1321-1326.
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;16:329-335.
TYBURCZY ME, KOTULSKA K, POKAROWSKI P, MIECZKOWSKI J, KUCHARSKA J, GRA-JKOWSKA W, ET AL. Novel proteins regulated by mTOR in subependymal giant cell astrocytomas of patients with tuberous sclerosis complex and new therapeutic implications. Am J Pathol. 2010;176:1878-1890.
CUCCIA V, ZUCCARO G, SOSA F, MONGES J, LUBIENIEKY F, TARATUTO L. Subependymal giant cell astrocytoma in children with tuberous sclerosis. Child Nerv Syst 2003;19: 232-243.
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;363:1801-1811.
This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.